S.NO | Uniprot ID | Protein Name | Sequence Length | SEC63 Region | Mutation | Involvement of Repeats in Mutations |
1 | Q9UGP8 | Translocation protein SEC63 homolog | 760 | 132 132 H->Q: Reduces cotranslational translocation of APLN precursor/preproapelin 735 760 735 760 Missing: Reduces cotranslational translocation of APLN precursor/preproapelin | N | |
2 | Q8N3C0 | Activating signal cointegrator 1 complex subunit 3 | 2202 | 1354 1354 G->D: Abolishes 3'-5' DNA helicase activity and ability to promote DNA repair | N | |
3 | O75643 | U5 small nuclear ribonucleoprotein 200 kDa helicase | 2136 | 603 603 R->A: Strongly decreased ATP-dependent RNA helicase activity 637 637 R->A: Strongly decreased ATP-dependent RNA helicase activity 1544 1544 K->A: Decreased ATP-dependent RNA helicase activity 1548 1548 H->A: Strongly decreased ATP-dependent RNA helicase activity 1578 1578 T->A: Decreased ATP-dependent RNA helicase activity | N |