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| MutDB Position: SWISS:VAR_002378 | |
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SNP Info | Annotation Info | |
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Gene accession number: | Q93063 |
Swiss-Prot Source: | VAR_002378 |
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Swiss gene ID: | EXT2_HUMAN | | |
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Phenotype: | in EXT2; can still form an oligomeric complex | | |
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Wild type amino acid: | D | | |
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Mutant amino acid: | N | | |
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Location: | 227 | | |
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SIFT Score: (help?) | 0.00 | | | |
SIFT Prediction: | DELETERIOUS | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: Q93063 | MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVR
LPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDS
DYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRA
LLAGGGFSTWTYRQGY [ D -> N ] VSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDL
EALQVKHGESVLVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGC
VPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALA
TLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKV
PSLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDEL
QFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNW
VDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPL
KVVEHRADPVLYKDDFPEKLKSFPNIGSL |
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