Variant position: 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 988 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AGPRHNVHPTQIYGHHKEQF SDREQDIGMPKKTGSSSTVDS
Mouse MGPRHNAHPTQIYGHQKEQY SYKAQDGGMPKKMGSSSTMDS
Rat LGPRHNAHPTQIYGHHKEQY SYQAQDRGIPKKTDSSSTVDS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 988 Chloride channel protein 1
1 – 118 Cytoplasmic
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.
Sangiuolo F.; Botta A.; Mesoraca A.; Servidei S.; Merlini L.; Fratta G.; Novelli G.; Dallapiccola B.;
Hum. Mutat. 11:331-331(1998)
Cited for: VARIANTS MCAR ILE-563 AND LEU-708;
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Ronstedt K.; Sternberg D.; Detro-Dassen S.; Gramkow T.; Begemann B.; Becher T.; Kilian P.; Grieschat M.; Machtens J.P.; Schmalzing G.; Fischer M.; Fahlke C.;
Sci. Rep. 5:15382-15382(2015)
Cited for: VARIANTS MCAR ARG-43; LEU-70; ASP-137; HIS-160; SER-496 AND GLU-855; CHARACTERIZATION OF VARIANTS MCAR ARG-43; LEU-70; ASP-137 AND HIS-160; FUNCTION; SUBCELLULAR LOCATION; SUBUNIT;
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.