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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35523: Variant p.Tyr261Cys

Chloride channel protein 1
Gene: CLCN1
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Variant information Variant position: help 261
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 261 (Y261C, p.Tyr261Cys).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In MCAR.
Other resources: help


Sequence information Variant position: help 261
Protein sequence length: help 988
Location on the sequence: help ICAAVLSKFMSVFCGVYEQP Y YYSDILTVGCAVGVGCCFGT
Residue conservation: help
Human                         ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGT

                              ICAAVLSKFMSMFCGVYEQPYYYTDMLTVGCAVGVGCCFGT

Mouse                         ICAAVLSKFMSMFSGVYEQPYYYTDILTVGCAVGVGCCFGT

Rat                           ICAAVLSKFMSMFSGVYEQPYYYTDILTVGCAVGVGCCFGT

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 988 Chloride channel protein 1
Topological domain 247 – 268 Cytoplasmic



Literature citations
Novel muscle chloride channel mutations and their effects on heterozygous carriers.
Mailaender V.; Heine R.; Deymeer F.; Lehmann-Horn F.;
Am. J. Hum. Genet. 58:317-324(1996)
Cited for: VARIANTS MCAR CYS-150; ARG-200; CYS-261 AND VAL-415;
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.