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| MutDB Position: SWISS:VAR_012830 | |
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SNP Info | Annotation Info | |
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Gene accession number: | Q92935 |
Swiss-Prot Source: | VAR_012830 |
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Swiss gene ID: | EXTL1_HUMAN | | |
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Phenotype: | in dbSNP:11247847 | | |
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Wild type amino acid: | H | | |
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Mutant amino acid: | N | | |
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Location: | 379 | | |
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SIFT Score: (help?) | 0.21 | | | |
SIFT Prediction: | TOLERATED | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: Q92935 | MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQPGELPEDAVS
PPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEGSRFYTFSPAGACLLLLLSLD
AQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMVAEASPTVDSFRPGFDVALPFLPEAHPLRGG
APGQLRQHSPQPGVALLALEEERGGWRTADTGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRP
EAASRFLQALQAGCIPVLLSPRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFL
WDAYFSSVEKVIHTTLEVIQDRIFGTSA [ H -> N ] PSLLWNSPPGALLALSTFSTSPQDFPFYYL
QQGSRPEGRFSALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVS
DRFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGYTAERTNEFS
MVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLPPIKVPYGKQRQEAAPLAPG
GPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFKDPVSVQRKKYRSLEKP |
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