UniProtKB/SwissProt variant VAR

Chloride channel protein 1
Gene: CLCN1
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Variant information Variant position:

261
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tyrosine (Y) to Cysteine (C) at position 261 (Y261C, p.Tyr261Cys).
Physico-chemical properties:

Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score:

-2
Variant description:

In MCAR.
Other resources:

Variant rs200621976 [ dbSNP | Ensembl ]

Sequence information Variant position:

261
Protein sequence length:

988
Location on the sequence:

ICAAVLSKFMSVFCGVYEQP Y YYSDILTVGCAVGVGCCFGT
Residue conservation:

Human                         ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGT

                              ICAAVLSKFMSMFCGVYEQPYYYTDMLTVGCAVGVGCCFGT

Mouse                         ICAAVLSKFMSMFSGVYEQPYYYTDILTVGCAVGVGCCFGT

Rat                           ICAAVLSKFMSMFSGVYEQPYYYTDILTVGCAVGVGCCFGT

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35523: Variant p.Tyr261Cys