Mutations on the Protein

Mutations on the Protein: Q03468 From Positions: 1045 To 1120

6 4	1 1

Swiss-Prot Polymorphism: VAR_036024

p.GLU1119GLN N/A		N/A VAR_036024
N/A

Swiss-Prot Polymorphism: VAR_036025

p.GLU1119VAL N/A		N/A VAR_036025
N/A

Swiss-Prot Polymorphism: VAR_001223

p.MET1097VAL N/A		N/A VAR_001223
N/A

Swiss-Prot Polymorphism: VAR_001222

p.PRO1095ARG N/A		N/A VAR_001222
N/A

dbSNP Polymorphism: rs2228526

p.MET1097VAL rs2228526		N/A N/A
N/A

OMIM Disease: 609413.0008

p.PRO1095ARG N/A		609413.0008 N/A
COCKAYNE SYNDROME B

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