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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6X9: Variant p.Arg585Cys

ATPase MORC2
Gene: MORC2
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Variant information Variant position: help 585
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 585 (R585C, p.Arg585Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 585
Protein sequence length: help 1032
Location on the sequence: help TEKIRQQQEKLEALQKTTPI R SQADLKKLPLEVTTRPSTEE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 1032 ATPase MORC2
Region 577 – 793 Disordered
Modified residue 582 – 582 Phosphothreonine
Modified residue 602 – 602 Phosphoserine



Literature citations
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Albulym O.M.; Kennerson M.L.; Harms M.B.; Drew A.P.; Siddell A.H.; Auer-Grumbach M.; Pestronk A.; Connolly A.; Baloh R.H.; Zuchner S.; Reddel S.W.; Nicholson G.A.;
Ann. Neurol. 79:419-427(2016)
Cited for: VARIANTS CMT2Z GLU-96; GLY-236; TRP-252 AND ARG-444; VARIANTS CYS-248; HIS-283; HIS-466; CYS-585 AND GLY-757;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.