sujigwak/NVAR huggingface dataset:
UniProt ID: P82251
Variant: I -> T at position 241-241
Variant annotation: in CSNU; dbSNP:rs777371504
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: R -> K at position 250-250
Variant annotation: in CSNU; dbSNP:rs766529640
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: G -> R at position 259-259
Variant annotation: in CSNU; type III; impairs protein stability and dimer formation; dbSNP:rs121908483
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: P -> L at position 261-261
Variant annotation: in CSNU; types I and III; dbSNP:rs121908486
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: L -> F at position 283-283
Variant annotation: in CSNU; dbSNP:rs1357600282
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: S -> F at position 286-286
Variant annotation: in CSNU; uncertain significance; dbSNP:rs755135545
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: A -> V at position 316-316
Variant annotation: in CSNU
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: G -> R at position 319-319
Variant annotation: in CSNU
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: A -> E at position 324-324
Variant annotation: in CSNU; uncertain significance
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: V -> M at position 330-330
Variant annotation: in CSNU; type III; dbSNP:rs201618022
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: A -> V at position 331-331
Variant annotation: in CSNU; non-classic type I; dbSNP:rs768466784
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: R -> Q at position 333-333
Variant annotation: in CSNU; decreased amino acid transport activity; dbSNP:rs769576205
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: R -> W at position 333-333
Variant annotation: in CSNU; severe loss of amino acid transport activity; dbSNP:rs121908484
Effect: loss
Target: amino acid transport activity
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: A -> T at position 354-354
Variant annotation: in CSNU; type III; severe loss of amino acid transport activity; dbSNP:rs939028046
Effect: loss
Target: amino acid transport activity
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: S -> R at position 379-379
Variant annotation: in CSNU; dbSNP:rs142270619
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: A -> T at position 382-382
Variant annotation: in CSNU; severe loss of amino acid transport activity; dbSNP:rs774878350
Effect: loss
Target: amino acid transport activity
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: K -> E at position 401-401
Variant annotation: in CSNU; uncertain significance; dbSNP:rs760264924
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: L -> P at position 426-426
Variant annotation: in CSNU; uncertain significance
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82251
Variant: P -> L at position 482-482
Variant annotation: in CSNU; severe loss of amino acid transport activity; no effect on localization to the apical membrane; dbSNP:rs146815072
Effect: loss
Target: amino acid transport activity
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
UniProt ID: P82290
Variant: N -> H at position 2-2
Variant annotation: in strain: GAM4B and GAM6B
Protein function: Antibacterial activity against several Gram-positive and Gram-negative bacteria. Antifungal activity against A.fumigatus, B.cinerea, F.culmorum, F.oxysporum, N.crassa, C.albicans, C.neoformans and S.cerevisiae.
Reference sequence:
MNFSKIFIFVVLAVLLLCSQTEAGRLKKLGKKIEGAGKRVFKAAEKALPVVAGVKALG
UniProt ID: P82290
Variant: I -> F at position 8-8
Variant annotation: in strain: GAM4B
Protein function: Antibacterial activity against several Gram-positive and Gram-negative bacteria. Antifungal activity against A.fumigatus, B.cinerea, F.culmorum, F.oxysporum, N.crassa, C.albicans, C.neoformans and S.cerevisiae.
Reference sequence:
MNFSKIFIFVVLAVLLLCSQTEAGRLKKLGKKIEGAGKRVFKAAEKALPVVAGVKALG
UniProt ID: P82290
Variant: L -> V at position 16-16
Variant annotation: in strain: GAM5A and GAM5B
Protein function: Antibacterial activity against several Gram-positive and Gram-negative bacteria. Antifungal activity against A.fumigatus, B.cinerea, F.culmorum, F.oxysporum, N.crassa, C.albicans, C.neoformans and S.cerevisiae.
Reference sequence:
MNFSKIFIFVVLAVLLLCSQTEAGRLKKLGKKIEGAGKRVFKAAEKALPVVAGVKALG
UniProt ID: P82290
Variant: Q -> H at position 20-20
Variant annotation: in strain: GAM2B and GAM8B
Protein function: Antibacterial activity against several Gram-positive and Gram-negative bacteria. Antifungal activity against A.fumigatus, B.cinerea, F.culmorum, F.oxysporum, N.crassa, C.albicans, C.neoformans and S.cerevisiae.
Reference sequence:
MNFSKIFIFVVLAVLLLCSQTEAGRLKKLGKKIEGAGKRVFKAAEKALPVVAGVKALG
UniProt ID: P82290
Variant: E -> D at position 34-34
Variant annotation: in strain: GAM12B
Protein function: Antibacterial activity against several Gram-positive and Gram-negative bacteria. Antifungal activity against A.fumigatus, B.cinerea, F.culmorum, F.oxysporum, N.crassa, C.albicans, C.neoformans and S.cerevisiae.
Reference sequence:
MNFSKIFIFVVLAVLLLCSQTEAGRLKKLGKKIEGAGKRVFKAAEKALPVVAGVKALG
UniProt ID: P82292
Variant: E -> L at position 56-56
Protein function: May be involved in the fertilization process.
Reference sequence:
DSTDGLLVKDKYLCGDLYGEEYGVIFPYLGLKTECLWTIKMDPLYRILLTVRDVHENCNKESLEIIEGPPESSNSRKICDTSHAEYTSCTNTMTVKYTRKPNHPAPDFFLIFRRVL
UniProt ID: P82292
Variant: L -> G at position 63-63
Protein function: May be involved in the fertilization process.
Reference sequence:
DSTDGLLVKDKYLCGDLYGEEYGVIFPYLGLKTECLWTIKMDPLYRILLTVRDVHENCNKESLEIIEGPPESSNSRKICDTSHAEYTSCTNTMTVKYTRKPNHPAPDFFLIFRRVL
UniProt ID: P82592
Variant: G -> R at position 58-58
Variant annotation: in strain: Red-eye
Protein function: Antibacterial activity against Gram-negative bacteria E.coli D22 and D31, E.carotovora, K.pneumoniae, P.aeruginosa, S.typhimurium, E.cloacae B12 and X.campestris and Gram-positive bacteria A.viridans, M.luteus, B.megaterium and S.pyogenes. Possesses antifungal activity against F.oxysporum, F.culmorum and N.crassa, C.albicans, C.neoformans and S.cerevisiae. No activity against Gram-negative S.marcescens Db11, Gram-positive B.cereus, B.subtilis, B.thuringiensis, S.aureus and L.monocytogenes, the fungi A.fumigatus and B.bassiana and C.glabrata.
Reference sequence:
MNFTKLFLLIAMAVLLLTGQSEAGGLKKLGKKLEGAGKRVFNAAEKALPVVAGAKALGK
UniProt ID: P82683
Variant: D -> R at position 127-127
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP
UniProt ID: P82683
Variant: R -> T at position 131-131
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP
UniProt ID: P82683
Variant: T -> A at position 138-138
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP
UniProt ID: P82683
Variant: I -> F at position 358-358
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP