Summary for the 196-th Site(R) |
PID | QueryLength | FocusSite | TITLE |
2993159 | 296 | 196 R | RecName: Full=Myeloid differentiation primary response protein MyD88 ; |
AC/ID | AC:Q99836 ID:MYD88_HUMAN |
Feature Table for 196-th site |
VARIANT: /note="R -> C (in IMD68; results in a loss of function; decreases NF-kappa-B complex activation; dbSNP:rs137853064)" ECO:0000269|PubMed:19506249, ECO:0000269|PubMed:21057262, ECO:0000269|PubMed:24316379" /id="VAR_047954" MUTAGEN: /note="R->A: Reduced interaction with TIRAP, and strongly reduced activity. Strongly reduced interaction with TIRAP; when associated with A-288." HELIX: DOMAIN: /note="TIR" VAR_SEQ: /note="HMPERFDAFICYCPSDIQFVQEMIRQLEQTNYRLKLCVSDRDVLPGTCVWSI ASELIEKRCRRMVVVVSDDYLQSKECDFQTKFALSLSPGAHQKRLIPIKYKAMKKEFPS ILRFITVCDYTNPCTKSWFWTRLAKALSLP -> AAGWWWLSLMITCRARNVTSRPNLH SASLQVPIRSD (in isoform 3 and isoform 4)" /id="VSP_043500" CHAIN: /note="Myeloid differentiation primary response protein MyD88" /id="PRO_0000096666" |
VARIANT for 196-th site |
R->C LP/P dbSNP:rs1378530 " Immunodeficiency 68 (IMD68) " [MIM:612260] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
R:100% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
2js7 | (coil) | e (exposed) | 36.0 |
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