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SNP Info | Annotation Info | |
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Gene accession number: | O43464 |
Swiss-Prot Source: | VAR_027349 |
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Swiss gene ID: | HTRA2_HUMAN | | |
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Phenotype: | polymorphism; associated with a 2.15-fold increased risk of PD; reduced protease activity | | |
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Wild type amino acid: | A | | |
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Mutant amino acid: | S | | |
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Location: | 141 | | |
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SIFT Score: (help?) | 1.00 | | | |
SIFT Prediction: | TOLERATED | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: O43464 | MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRA
CLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPP
[ A -> S ] SPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHV
VADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNT
ITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLR
EFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRP
GDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE |
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