sujigwak/NVAR huggingface dataset:
UniProt ID: P36021
Variant: I -> L at position 323-323
Variant annotation: in dbSNP:rs12849411
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: L -> W at position 360-360
Variant annotation: in MCT8 deficiency; impaired homodimerization; dbSNP:rs104894939
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: R -> C at position 371-371
Variant annotation: in MCT8 deficiency; impaired homodimerization; dbSNP:rs587784384
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: D -> V at position 379-379
Variant annotation: in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: L -> P at position 397-397
Variant annotation: in MCT8 deficiency; does not affect homodimerization activity; dbSNP:rs122455132
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: L -> P at position 438-438
Variant annotation: in MCT8 deficiency; does not affect homodimerization activity; dbSNP:rs104894931
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: P -> L at position 463-463
Variant annotation: in MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane; dbSNP:rs2147871919
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: G -> D at position 484-484
Variant annotation: in MCT8 deficiency; does not affect homodimerization activity; impaired thyroid hormone transporter activity; impaired localization to the cell membrane
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: G -> E at position 490-490
Variant annotation: in MCT8 deficiency; results in a mild clinical phenotype; retains some residual thyroid hormone transporter activity
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: G -> R at position 490-490
Variant annotation: in MCT8 deficiency; loss of thyroid hormone transport; dbSNP:rs794727799
Effect: loss
Target: thyroid hormone transport
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36021
Variant: L -> P at position 494-494
Variant annotation: in MCT8 deficiency; does not affect homodimerization activity; dbSNP:rs104894938
Protein function: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) . Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) .
Reference sequence:
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
UniProt ID: P36185
Variant: MFAFICLLAIAS -> LAIAN at position 1-12
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: SK -> AN at position 21-22
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: IEK -> VEA at position 30-32
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: KFVDSFNKI -> RFVAEFNKK at position 44-52
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: T -> V at position 81-81
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: QVK -> KVT at position 86-88
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: KE -> AQ at position 102-103
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36185
Variant: D -> N at position 138-138
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: P36192
Variant: L -> P at position 6-6
Variant annotation: in strain: 2CPA7 and 2CPA14
Protein function: Responsible for the anti Gram-positive activity of immune hemolymph. Expressed in the absence of immune challenge during metamorphosis.
Reference sequence:
MKFFVLVAIAFALLACVAQAQPVSDVDPIPEDHVLVHEDAHQEVLQHSRQKRATCDLLSKWNWNHTACAGHCIAKGFKGGYCNDKAVCVCRN
UniProt ID: P36192
Variant: A -> T at position 15-15
Variant annotation: in strain: 2CPA12, 2CPA43, 2CPA46, 2CPA51, 2CPA103 and 2CPA105
Protein function: Responsible for the anti Gram-positive activity of immune hemolymph. Expressed in the absence of immune challenge during metamorphosis.
Reference sequence:
MKFFVLVAIAFALLACVAQAQPVSDVDPIPEDHVLVHEDAHQEVLQHSRQKRATCDLLSKWNWNHTACAGHCIAKGFKGGYCNDKAVCVCRN
UniProt ID: P36192
Variant: V -> M at position 17-17
Variant annotation: in strain: 2CPA1, 2CPA12, 2CPA43, 2CPA46, 2CPA51, 2CPA103 and 2CPA105
Protein function: Responsible for the anti Gram-positive activity of immune hemolymph. Expressed in the absence of immune challenge during metamorphosis.
Reference sequence:
MKFFVLVAIAFALLACVAQAQPVSDVDPIPEDHVLVHEDAHQEVLQHSRQKRATCDLLSKWNWNHTACAGHCIAKGFKGGYCNDKAVCVCRN
UniProt ID: P36192
Variant: E -> D at position 38-38
Variant annotation: in strain: 2CPA7 and 2CPA14
Protein function: Responsible for the anti Gram-positive activity of immune hemolymph. Expressed in the absence of immune challenge during metamorphosis.
Reference sequence:
MKFFVLVAIAFALLACVAQAQPVSDVDPIPEDHVLVHEDAHQEVLQHSRQKRATCDLLSKWNWNHTACAGHCIAKGFKGGYCNDKAVCVCRN
UniProt ID: P36193
Variant: T -> A at position 52-52
Variant annotation: in strain: 2CPA1, 2CPA12, 2CPA51, 2CPA105, 2CPA118, 2CPA122, 8B, 8D, 8E, 8F, 8G, 9A, 9B, 9C, 9D, 9E, 9F, 9G, 9H, 10B, 10F, 10G, 10H and Oregon-R; required for antibacterial activity against Providencia burhodogranariea
Effect: gain
Protein function: Antibacterial peptide with strong anti-Gram-negative bacteria activity.
Reference sequence:
MKFTIVFLLLACVFAMGVATPGKPRPYSPRPTSHPRPIRVRREALAIEDHLTQAAIRPPPILPA
UniProt ID: P36193
Variant: A -> V at position 64-64
Variant annotation: in strain: 2CPA51
Protein function: Antibacterial peptide with strong anti-Gram-negative bacteria activity.
Reference sequence:
MKFTIVFLLLACVFAMGVATPGKPRPYSPRPTSHPRPIRVRREALAIEDHLTQAAIRPPPILPA
UniProt ID: P36366
Variant: V -> L at position 522-522
Variant annotation: in B form
Protein function: Catalyzes the oxidative metabolism of numerous xenobiotics, including mainly therapeutic drugs and insecticides that contain a soft nucleophile, most commonly nitrogen and sulfur and participates to their bioactivation.
Reference sequence:
MAKKVAVIGAGVSGLISLKCCVDEGLEPTCFERTEDIGGLWRFKENVEDGRASIYKSVITNTSKEMSCFSDFPMPEDFPNFLHNSKLLEYFRLFAKKFDLLKYIQFQTTVLTVKKHPDFSSSGQWEVVTQSDGKEQSAVFDAVMVCSGHHILPHIPLKSFPGIERFKGQYFHSRQYKHPAGFEGKRILVIGIGNSASDIASELSKNAAQVFISTRNGSWVMSRISEDGYPWDMVFHTRFKSMLRNILPRTVSKWMMEQQLNRWFNHANYSLEPKNKYLMKEPILNDDLPSRILYGAVKVKSRVTQLTETSALFEDGTVEEDIDVIVFATGYTFSFPFLEESLVKIEHNMVSLYKYMFPPQLEKPTLTCMGLIQPLGSIFPTVELQARWATRVFKGLCHLPSEKTMMEDIIKRNEKRIDLFGESQSQIVQTNYVDYLDELALEIGAKPDLISFLLKDPELAVKLCFGPCNSYQYRLVGPGQWEGARRAILTQKQRILKPLKTRSVKAAPNLSASFLMKILALVAVFVAFFSQLYGF
UniProt ID: P36366
Variant: S -> F at position 530-530
Variant annotation: in B form
Protein function: Catalyzes the oxidative metabolism of numerous xenobiotics, including mainly therapeutic drugs and insecticides that contain a soft nucleophile, most commonly nitrogen and sulfur and participates to their bioactivation.
Reference sequence:
MAKKVAVIGAGVSGLISLKCCVDEGLEPTCFERTEDIGGLWRFKENVEDGRASIYKSVITNTSKEMSCFSDFPMPEDFPNFLHNSKLLEYFRLFAKKFDLLKYIQFQTTVLTVKKHPDFSSSGQWEVVTQSDGKEQSAVFDAVMVCSGHHILPHIPLKSFPGIERFKGQYFHSRQYKHPAGFEGKRILVIGIGNSASDIASELSKNAAQVFISTRNGSWVMSRISEDGYPWDMVFHTRFKSMLRNILPRTVSKWMMEQQLNRWFNHANYSLEPKNKYLMKEPILNDDLPSRILYGAVKVKSRVTQLTETSALFEDGTVEEDIDVIVFATGYTFSFPFLEESLVKIEHNMVSLYKYMFPPQLEKPTLTCMGLIQPLGSIFPTVELQARWATRVFKGLCHLPSEKTMMEDIIKRNEKRIDLFGESQSQIVQTNYVDYLDELALEIGAKPDLISFLLKDPELAVKLCFGPCNSYQYRLVGPGQWEGARRAILTQKQRILKPLKTRSVKAAPNLSASFLMKILALVAVFVAFFSQLYGF
UniProt ID: P36382
Variant: V -> I at position 85-85
Variant annotation: in ATFB11; dbSNP:rs387906613
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV
UniProt ID: P36382
Variant: P -> S at position 88-88
Variant annotation: in ATRST1; somatic; dbSNP:rs121434558
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV
UniProt ID: P36382
Variant: A -> S at position 96-96
Variant annotation: in ATRST1; dbSNP:rs121434557
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV
UniProt ID: P36382
Variant: L -> I at position 221-221
Variant annotation: in ATFB11; dbSNP:rs387906614
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV