Variant position: 1671 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2068 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 LHTFARDLGEKMALEVVFLA RGPSGLLLYNGQKTDGKGDFV
Mouse LHTFERDLGEKMALEMVFLA RGPSGLLLYNGQKTDGKGDFV
Rat LHTFERDLGEKMALEMVFLA RGPSGLLLYNGQKTDGKGDFV
Chicken LQTLFLT-CRQMSMEVVFLA KSPSGMIFYNGQKTDGKGDFV
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.
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huze C.; Bauche S.; Richard P.; Chevessier F.; Goillot E.; Gaudon K.; Ben Ammar A.; Chaboud A.; Grosjean I.; Lecuyer H.A.; Bernard V.; Rouche A.; Alexandri N.; Kuntzer T.; Fardeau M.; Fournier E.; Brancaccio A.; Ruegg M.A.; Koenig J.; Eymard B.; Schaeffer L.; Hantai D.;
Am. J. Hum. Genet. 85:155-167(2009)
Cited for: INVOLVEMENT IN CMS8; VARIANT CMS8 ARG-1709; VARIANTS LEU-23; ASN-58; ILE-105; MET-267; SER-375; VAL-728; ARG-852; MET-984; PHE-1088; LYS-1118; ARG-1135; LEU-1240; ARG-1341; LEU-1451; THR-1514; HIS-1565; ILE-1666; GLN-1671; PRO-1698; HIS-1734; ASN-1789 AND VAL-2046; FUNCTION; CHARACTERIZATION OF VARIANT CMS8 ARG-1709;
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.