Summary for the 162-nd Site(V)
PID QueryLength FocusSite TITLE
2691701 207 162 V RecName: Full=Ras-related protein Rab-7a ; EC=3.6.5.2 ;
UniProt Information
AC/IDAC:P51149 ID:RAB7A_HUMAN
Feature Table for 162-th site VARIANT: /note="V -> M (in CMT2B; increases GTP hydrolysis; decreases affinity for GTP and GDP; does not affect interaction with NTRK1; results in higher levels of NTRK1 and MAPK1/MAPK3 phosphorylation after NGF stimulation consistent with enhanced MAPK signaling; increases interaction with PRPH; dbSNP:rs121909079)" ECO:0000269|PubMed:20028791, ECO:0000269|PubMed:21151572, ECO:0000269|PubMed:23179371" /id="VAR_018723"
CHAIN: /note="Ras-related protein Rab-7a" /id="PRO_0000121121"
VARIANT for 162-th site V->M LP/P dbSNP:rs1219090 " Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) " [MIM:600882]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
V:60% I:20% L:9% F:3% T:2% A:1% E:1% K:1% M:1% Y:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
1vg8 H (alpha-helix) b (buried) 2.0


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