Variant position: 1306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1836 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 TLNLFIGVIIDNFNQQKKKL GGKDIFMTEEQKKYYNAMKKL
Mouse TLNLFIGVIIDNFNQQKKKF GGKDIFMTEEQKKYYNAMKKL
Rat TLNLFIGVIIDNFNQQKKKF GGKDIFMTEEQKKYYNAMKKL
Horse TINSLIRLIIVNFNQQKKKL GGKDIFMTEEQKKYYNAMKKL
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.
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
McClatchey A.I.; van den Bergh P.; Pericak-Vance M.A.; Raskind W.; Verellen C.; McKenna-Yasek D.; Rao K.; Haines J.L.; Bird T.; Brown R.H. Jr.; Gusella J.F.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1305-1339; VARIANTS PMC VAL-1306 AND MET-1313;
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
Lerche H.; Heine R.; Pika U.; George A.L. Jr.; Mitrovic N.; Browatzki M.; Weiss T.; Rivet-Bastide M.; Franke C.; Lomonaco M.; Ricker K.; Lehmann-Horn F.;
J. Physiol. (Lond.) 470:13-22(1993)
Cited for: VARIANTS PMC ALA-1306; GLU-1306 AND VAL-1306;
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupre N.; Chrestian N.; Bouchard J.-P.; Rossignol E.; Brunet D.; Sternberg D.; Brais B.; Mathieu J.; Puymirat J.;
Neuromuscul. Disord. 19:330-334(2009)
Cited for: VARIANTS MYOSCN4A MET-445; LYS-452; SER-671; VAL-1306 AND ILE-1476;
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.