sujigwak/NVAR huggingface dataset:
UniProt ID: Q4G176
Variant: G -> S at position 480-480
Variant annotation: in CMAMMA
Protein function: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester . May have some preference toward very-long-chain substrates .
Reference sequence:
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
UniProt ID: Q4G176
Variant: R -> W at position 558-558
Variant annotation: in CMAMMA; dbSNP:rs141090143
Protein function: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester . May have some preference toward very-long-chain substrates .
Reference sequence:
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS
UniProt ID: Q4JQH5
Variant: V -> I at position 42-42
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MASLRKTHPLMKIANDMVVDLPTPSNISAWWNFGSLLGLCLVAQILTGLFLAMHYTSDIATAFSSVAHICRDVNYGWLIRNLHANGASFFFICLYLHIGRGLYYGSYLQKETWNIGVVLLLLVMATAFVGYVLPWGQMSFWGATVITNLLSAVPYVGNTLVQWVWGGFSVDHATLTRFFAFHFLLPFIVAAAVIVHLIFLHETGSNNPLGLNSDTDKIPFHPYFSYKDLIGFTVLLTTLTMLALFSPNYLGDPDNFTPANPLVTPAHIKPEWYFLFAYAILRSIPNKLGGVLALLASILRLMEVPLLHTSKKRKPYFSDPLTNFLFWTLIGRMWPSSPESEACLVEHPYVIIGQAASILYFSLFLVLMPAAGWLENKTLQ
UniProt ID: Q4KL25
Variant: C -> F at position 161-161
Variant annotation: in hscy
Protein function: In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation.
Reference sequence:
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVSTPQAGYFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALAMFLIIGSIICFSLFFVCNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGNEEV
UniProt ID: Q4L180
Variant: R -> H at position 168-168
Variant annotation: in dbSNP:rs793440
Protein function: Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.
Reference sequence:
MRSRGSDTEGSAQKKFPRHTKGHSFQGPKNMKHRQQDKDSPSESDVILPCPKAEKPHSGNGHQAEDLSRDDLLFLLSILEGELQARDEVIGILKAEKMDLALLEAQYGFVTPKKVLEALQRDAFQAKSTPWQEDIYEKPMNELDKVVEKHKESYRRILGQLLVAEKSRRQTILELEEEKRKHKEYMEKSDEFICLLEQECERLKKLIDQEIKSQEEKEQEKEKRVTTLKEELTKLKSFALMVVDEQQRLTAQLTLQRQKIQELTTNAKETHTKLALAEARVQEEEQKATRLEKELQTQTTKFHQDQDTIMAKLTNEDSQNRQLQQKLAALSRQIDELEETNRSLRKAEEELQDIKEKISKGEYGNAGIMAEVEELRKRVLDMEGKDEELIKMEEQCRDLNKRLERETLQSKDFKLEVEKLSKRIMALEKLEDAFNKSKQECYSLKCNLEKERMTTKQLSQELESLKVRIKELEAIESRLEKTEFTLKEDLTKLKTLTVMFVDERKTMSEKLKKTEDKLQAASSQLQVEQNKVTTVTEKLIEETKRALKSKTDVEEKMYSVTKERDDLKNKLKAEEEKGNDLLSRVNMLKNRLQSLEAIEKDFLKNKLNQDSGKSTTALHQENNKIKELSQEVERLKLKLKDMKAIEDDLMKTEDEYETLERRYANERDKAQFLSKELEHVKMELAKYKLAEKTETSHEQWLFKRLQEEEAKSGHLSREVDALKEKIHEYMATEDLICHLQGDHSVLQKKLNQQENRNRDLGREIENLTKELERYRHFSKSLRPSLNGRRISDPQVFSKEVQTEAVDNEPPDYKSLIPLERAVINGQLYEESENQDEDPNDEGSVLSFKCSQSTPCPVNRKLWIPWMKSKEGHLQNGKMQTKPNANFVQPGDLVLSHTPGQPLHIKVTPDHVQNTATLEITSPTTESPHSYTSTAVIPNCGTPKQRITILQNASITPVKSKTSTEDLMNLEQGMSPITMATFARAQTPESCGSLTPERTMSPIQVLAVTGSASSPEQGRSPEPTEISAKHAIFRVSPDRQSSWQFQRSNSNSSSVITTEDNKIHIHLGSPYMQAVASPVRPASPSAPLQDNRTQGLINGALNKTTNKVTSSITITPTATPLPRQSQITVEPLLLPH
UniProt ID: Q4L180
Variant: A -> P at position 884-884
Variant annotation: in dbSNP:rs28362487
Protein function: Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature.
Reference sequence:
MRSRGSDTEGSAQKKFPRHTKGHSFQGPKNMKHRQQDKDSPSESDVILPCPKAEKPHSGNGHQAEDLSRDDLLFLLSILEGELQARDEVIGILKAEKMDLALLEAQYGFVTPKKVLEALQRDAFQAKSTPWQEDIYEKPMNELDKVVEKHKESYRRILGQLLVAEKSRRQTILELEEEKRKHKEYMEKSDEFICLLEQECERLKKLIDQEIKSQEEKEQEKEKRVTTLKEELTKLKSFALMVVDEQQRLTAQLTLQRQKIQELTTNAKETHTKLALAEARVQEEEQKATRLEKELQTQTTKFHQDQDTIMAKLTNEDSQNRQLQQKLAALSRQIDELEETNRSLRKAEEELQDIKEKISKGEYGNAGIMAEVEELRKRVLDMEGKDEELIKMEEQCRDLNKRLERETLQSKDFKLEVEKLSKRIMALEKLEDAFNKSKQECYSLKCNLEKERMTTKQLSQELESLKVRIKELEAIESRLEKTEFTLKEDLTKLKTLTVMFVDERKTMSEKLKKTEDKLQAASSQLQVEQNKVTTVTEKLIEETKRALKSKTDVEEKMYSVTKERDDLKNKLKAEEEKGNDLLSRVNMLKNRLQSLEAIEKDFLKNKLNQDSGKSTTALHQENNKIKELSQEVERLKLKLKDMKAIEDDLMKTEDEYETLERRYANERDKAQFLSKELEHVKMELAKYKLAEKTETSHEQWLFKRLQEEEAKSGHLSREVDALKEKIHEYMATEDLICHLQGDHSVLQKKLNQQENRNRDLGREIENLTKELERYRHFSKSLRPSLNGRRISDPQVFSKEVQTEAVDNEPPDYKSLIPLERAVINGQLYEESENQDEDPNDEGSVLSFKCSQSTPCPVNRKLWIPWMKSKEGHLQNGKMQTKPNANFVQPGDLVLSHTPGQPLHIKVTPDHVQNTATLEITSPTTESPHSYTSTAVIPNCGTPKQRITILQNASITPVKSKTSTEDLMNLEQGMSPITMATFARAQTPESCGSLTPERTMSPIQVLAVTGSASSPEQGRSPEPTEISAKHAIFRVSPDRQSSWQFQRSNSNSSSVITTEDNKIHIHLGSPYMQAVASPVRPASPSAPLQDNRTQGLINGALNKTTNKVTSSITITPTATPLPRQSQITVEPLLLPH
UniProt ID: Q4L235
Variant: I -> V at position 61-61
Variant annotation: in dbSNP:rs34543011
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: P -> R at position 93-93
Variant annotation: in dbSNP:rs34228795
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: K -> R at position 368-368
Variant annotation: in dbSNP:rs3796543
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: A -> V at position 747-747
Variant annotation: in dbSNP:rs3796544
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: V -> I at position 774-774
Variant annotation: in dbSNP:rs3796545
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: T -> A at position 865-865
Variant annotation: in dbSNP:rs12498340
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4L235
Variant: Y -> D at position 1030-1030
Variant annotation: in dbSNP:rs8340
Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.
Reference sequence:
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK
UniProt ID: Q4LAM6
Variant: R -> L at position 108-108
Variant annotation: in strain: cv. Elstar
Protein function: Usually encoded in the trnK tRNA gene intron. Probably assists in splicing its own and other chloroplast group II introns.
Reference sequence:
MEEFQGYLELDRYQQHDFLYPLIFREYIYALAHDHGLNRSILLDNVGYDTKYSLLIIKRLISRMYQQNHLIISANDSNQNKFFGYNKNLYSQMMSEGFAVIVEIPFSRRLVSSLEATEIVKSYNLRSIHSIFPFLEDKFPHLNYVSDVLIPYPIHLEILVQTLRYWVKDPSSLHLLRLFLHEYSNWNSLITPKKIIFSKSNPRLFLLLYNSHVCEYESILLFLRNQSSHLRLTSSGIFFERIHFYEKKKDPVEEVFVNDFPAAILWFFKDPFMHYVRYQGKSILSSKDTPLLMNKWKYYLVNLWQCHSYVWSQPGRIYINQLSKHSLDFLGYFSSMRPNLSVVRGQMLENSFIMDNAMKKLDTLVPIIPLIGSLAKVKFCNALGHPISKSTWADSSDFDIIDRFLHICRNLSHYYSGSSRKKSLYRIKYILRLSCVKTLARKHKSTVRTFLKRLGYKIIGRILYGRRTDSFFNLPKSFLYFEEVL
UniProt ID: Q4LAM6
Variant: P -> S at position 338-338
Variant annotation: in strain: cv. Elstar
Protein function: Usually encoded in the trnK tRNA gene intron. Probably assists in splicing its own and other chloroplast group II introns.
Reference sequence:
MEEFQGYLELDRYQQHDFLYPLIFREYIYALAHDHGLNRSILLDNVGYDTKYSLLIIKRLISRMYQQNHLIISANDSNQNKFFGYNKNLYSQMMSEGFAVIVEIPFSRRLVSSLEATEIVKSYNLRSIHSIFPFLEDKFPHLNYVSDVLIPYPIHLEILVQTLRYWVKDPSSLHLLRLFLHEYSNWNSLITPKKIIFSKSNPRLFLLLYNSHVCEYESILLFLRNQSSHLRLTSSGIFFERIHFYEKKKDPVEEVFVNDFPAAILWFFKDPFMHYVRYQGKSILSSKDTPLLMNKWKYYLVNLWQCHSYVWSQPGRIYINQLSKHSLDFLGYFSSMRPNLSVVRGQMLENSFIMDNAMKKLDTLVPIIPLIGSLAKVKFCNALGHPISKSTWADSSDFDIIDRFLHICRNLSHYYSGSSRKKSLYRIKYILRLSCVKTLARKHKSTVRTFLKRLGYKIIGRILYGRRTDSFFNLPKSFLYFEEVL
UniProt ID: Q4TVS0
Variant: A -> S at position 29-29
Variant annotation: in strain: NTHi 2019
Protein function: Part of the tripartite ATP-independent periplasmic (TRAP) transport system SiaPT involved in the uptake of sialic acid (N-acetyl-beta-neuraminate). N-Acetylneuraminate can then be incorporated into the lipooligosaccharides (LOS) as a terminal non-reducing sugar, protecting the bacterium from complement-mediated killing by normal human serum.
Reference sequence:
MKYINKLEEWLGGALFIAIFGILIAQILARQVFHSPLIWSEELAKLLFVYVGMLGISVAVRKQEHVFIDFLTNLMPEKIRKFTNTLVQLLVFICIFLFIHFGIRTFNGASFPIDALGGISEKWIFAALPVVAILMMFRFIQAQTLNFKTGKSYLPATFFIISAVVLFAILFFAPDWFKVLRISNYIKLGSSSVYVALLVWLIIMFIGVPVGWSLFIATLLYFSMTRWNVVNAATEKLVYSLDSFPLLAVPFYILTGILMNTGGITERIFNFAKSLLGHYTGGMGHVNIGASLLFSGMSGSALADAGGLGQLEIKAMRDAGYDDDICGGITAASCIIGPLVPPSIAMIIYGVIANESIAKLFIAGFIPGVLITLALMAMNYRIAKKRGYPRTPKTTREQLCSSFKQSFWAILTPLLIIGGIFSGLFSPTESAIVAAAYSVIIGKFVYKELTLKTLFNSCIEAMAITGVVALMIMTVTFFGDMIAREQVAMRVANVFVAVADSPLTVLVMINALLLFLGMFIDALALQFLVLPMLIPIAMQFNIDLIFFGVMTTLNMMIGILTPPMGMALFVVARVGNMSVSTVTKGVLPFLIPVFVTLVLITIFPQIITFVPNLLIP
UniProt ID: Q4TVS0
Variant: I -> M at position 133-133
Variant annotation: in strain: NTHi 7502
Protein function: Part of the tripartite ATP-independent periplasmic (TRAP) transport system SiaPT involved in the uptake of sialic acid (N-acetyl-beta-neuraminate). N-Acetylneuraminate can then be incorporated into the lipooligosaccharides (LOS) as a terminal non-reducing sugar, protecting the bacterium from complement-mediated killing by normal human serum.
Reference sequence:
MKYINKLEEWLGGALFIAIFGILIAQILARQVFHSPLIWSEELAKLLFVYVGMLGISVAVRKQEHVFIDFLTNLMPEKIRKFTNTLVQLLVFICIFLFIHFGIRTFNGASFPIDALGGISEKWIFAALPVVAILMMFRFIQAQTLNFKTGKSYLPATFFIISAVVLFAILFFAPDWFKVLRISNYIKLGSSSVYVALLVWLIIMFIGVPVGWSLFIATLLYFSMTRWNVVNAATEKLVYSLDSFPLLAVPFYILTGILMNTGGITERIFNFAKSLLGHYTGGMGHVNIGASLLFSGMSGSALADAGGLGQLEIKAMRDAGYDDDICGGITAASCIIGPLVPPSIAMIIYGVIANESIAKLFIAGFIPGVLITLALMAMNYRIAKKRGYPRTPKTTREQLCSSFKQSFWAILTPLLIIGGIFSGLFSPTESAIVAAAYSVIIGKFVYKELTLKTLFNSCIEAMAITGVVALMIMTVTFFGDMIAREQVAMRVANVFVAVADSPLTVLVMINALLLFLGMFIDALALQFLVLPMLIPIAMQFNIDLIFFGVMTTLNMMIGILTPPMGMALFVVARVGNMSVSTVTKGVLPFLIPVFVTLVLITIFPQIITFVPNLLIP
UniProt ID: Q4VY51
Variant: ITPNV -> LTPNL at position 87-91
Variant annotation: in strain: cv. Sparkle
Protein function: Required for both rhizobial and mycorrhizal symbiosis. Involved in Nod-factor-induced calcium spiking. May induce a change in membrane polarization that activates the opening of a calcium channel required for calcium spiking. Might be calcium gated.
Reference sequence:
MAKSNEEPNSNLNTNKPPLKRTKTLAQQPSLNLRVSIAAADNGIGNSSSSSTKTDFEQQQRNYPSFLGIGSTSRKRRPPPPPKPSNITPNVKPPASDFQTKPHSEPKTSPSSSSPPSLPIAITKQQQQQHSISSPIFYLFVITCVIFVPYSAFLQYKLAKLKDMKLQLCCQIDFCSGNGKTSLQKDVVDDGSFSYYILNADSRTISLYIVLFTLVLPFILYKYIDYLPQMINFSRRTNSNKEDVPLKKRVAYMVDVFFSIYPYAKLLALLFATLFLIAFGGLALYAVTGGSMAEALWHSWTYVADAGNHAETEGMGQRIVSVSISAGGMLIFAMMLGLVSDAISEKVDSLRKGKSEVIERNHVLILGWSDKLGSLLKQLAIANKSVGGGVIVVLAEKEKEEMEMDIAKLEFDFMGTSVICRSGSPLILADLKKVSVSKARAIIVLASDENADQSDARALRVVLSLTGVKEALRGHVVVEMSDLDNEPLVKLVGGELIETVVAHDVIGRLMIQCALQPGLAQIWEDILGFENAEFYIKRWPELDGLLFKDILISFPDAIPCGVKVSADGGKIVINPDDNYVLRDGDEVLVIAEDDDTYAPGPLPEVRKGYFPRIRDPPKYPEKILFCGWRRDIDDMIMVLEAFLAPGSELWMFNEVPEKQRERKLAAGELDVFGLENIKLVHREGNAVIRRHLESLPLETFDSILILADESVEDSVAHSDSRSLATLLLIRDIQSRRLPYRDTKSTSLRLSGFSHNSWIREMQQASDKSIIISEILDSRTRNLVSVSRISDYVLSNELVSMALAMVAEDKQINRVLEELFAEEGNEMCIKPAEFYLFDQEELCFYDIMIRGRTRKEIVIGYRLASQERALINPSEKSMTRKWSLDDVFVVIASGE
UniProt ID: Q4VZL0
Variant: YIY -> FFF at position 1352-1354
Variant annotation: in strain: cv. Baekmibaekdadagi
Protein function: Involved in protein precursor import into chloroplasts. May be part of an intermediate translocation complex acting as a protein-conducting channel at the inner envelope.
Reference sequence:
MILKSFILGNLVSLCMKIINSVVVVGLYYGFLTTFSIGPSYLFLLRAWLMEEGTEKKVSATTGFITGQLMMFISIYYAPLHLALGRPYTITVLALPYLLFHFFWTNPKHFFYYGSTTRNSMRNLSIQCVFLNNLIFQLFNHFILPSSMLVRLVNISMFRCNNKMLFVTSSFVGWLIGHILFMKSVGLILVWIQQNNSIISKKYIRSNKYLVSELRNSIAPIFSIILFITWVYYLGRIPSPIPLKETSKTSETAETEESEEETDVEIETTSETKGTKQEQEGSTEEDTSPSLFSEEKEDPDKIDETEEIRIDKKEKYLFGFEKPLGIILFDYKRWNRPFRYIKNDKFDNAVRKEMSQYFFYTCQSDGKDRIVFTYPPSVATFFELIEKKISLFSTEKLFYDEFDNPWKSLNEQKKRILNKIVITRILLLDKGSPTLVGDVLQKRTQLCICNDETKKEYLPKIYDPFLSGPYRRRINLLLGFSMLNETSRKNDSENIWTNKIHAIIRNNNNGFFDGVTIPYKANASDQNSIDLTEISKKVPRWSYKLIKEIEQVYDITDGELVLDYQIRSRKCKRVVILSDLNKIKKISTSTPTSTPTSTPTSTSTPTSTPTSTPTSTPTSTSTSTPASIPASTSTSIPASTSTSTSTSIPASTSTSTSIPASTSTSIPASTSTSTSTSTSIPASTSTSTNEIKSKDEPKDEPMEQAIIRYAKQWDFRREIIKGSMRAQRRKMGIYQLFQGANSYLFLDRHNFFFSDFCIYIPRLMEKLDRLRIRTNTELPISNNGEEKTREDLKNEKNQESINLKEEKHIQIAELWESIRFGQLVRGSLLITQAFLRKYIILPSVIIAANLTRILLLSPPHFFEDFKNWKKEIYVKCTYNAIPLAENEFPQNWLTDGIQIKILFPFRLQSWHRSKKIEKKDFCFLTVFGTETEQPFGSAENPFLFFKSDLIELREFIKKKKQQLKKWRTKYFRIFLRLRKKVFRKINIAKEKWVIKPILFIKKRIREFWQRNPILLLQLKEIYKLTEAKKENNSIISNGMIQSSSGSIDSIILSLRERKMKELTDRINTMLKIIEKMKKDRQKELLNTKINISPNKMSYYDKIFESQKNILKILKKRNVRFIRKSYKFLKFFVQNIYIDIFQGIINMSRINGQDSKITKSFFNNEANQERIDKPNQSIIISTIKKLLSNITNKNVKNQNLKMFWDVSYLSQAYLFYKLSQTKIINLSKLRPVFQYHGTSRFLKNEIQDYFVEVVGAHEILHSDLKQKKQKNLENSGMINPWKNWLRGHYNFDLYPIRWSKLLSQKWRNRVKQDRKNKDFNQCDSYEKKGLIDYKKQNPFETHYSLPTKKKKKYIYDSLSYKSINYEDNKDSYIYELPVQVKNNQESCYKYNKDKCKFFDILTDLPIDKYLVKNNYLVKANIRDLEKTMDRKYFDWRMLHFSIKNKGDIRVWRHNESDTNSKKNTQNGVKNFELIQKINKKIIKKIKKKELFYLTINQDKKSNPSNNKKQIFFDWMRMSEKKISRYRSNSNPKWFFPKFLILYNAYKIKPWMIPIKSLLFDLNENEIFSKKKLIEKKNGNKAKKESVAKEGVDSVLSNHTKNLQKDSAGADVKKGIKKKQSKKKIEGKLGVLRTGHFRFQLNWPNPEISKSLFMNLNGFSFMLRRLDLKKLSLAAIRNNEFSLEFLLPPSDDITFHELLEKGIFIIEPVRLSLKNDGKFIMSQTIGISLVQKNKYQLNQRYQEKGYPYKRSFAESIAIHQKRTENRTSNHYDLLVPENILSPRGRREFRILICFNSGNKNDIHRNTAFDDGNKVKTDDQVLDKRSKHLDRYQNQLKNLKLFLWPNYRLEDLACMNRYWFDTNNSSRFSMLRIHMYPQLKIR