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| MutDB Position: SWISS:VAR_009612 | |
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SNP Info | Annotation Info | |
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Gene accession number: | O14773 |
Swiss-Prot Source: | VAR_009612 |
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Swiss gene ID: | TPP1_HUMAN | | |
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Phenotype: | in LINCL | | |
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Wild type amino acid: | S | | |
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Mutant amino acid: | L | | |
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Location: | 475 | | |
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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: O14773 | MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSD
PSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHH
YVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYN
LTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYL
MSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAAR
GLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPS
YQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGT [ S -> L ] ASTP
VFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWG
TPNFPALLKTLLNP |
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