Variant position: 818 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1382 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 FEKVVNKE--------SLVISGLRHFTG YRIELQAC-NQDTPEERCSVAA
Mouse FEKVVNKE--------SLVISGLRHFTG YRIELQAC-NQDS
Rat FEKVVNKE--------SLVISGLRHFTG YRIELQAC-NQDS
Xenopus laevis SQKVWFKE--------SVLISGLKHFTG YRIEIHAC-NHEL
Caenorhabditis elegans LPGSWAINVSALALDNSYVIRNLKHYTL YAISLSACQNMTV
Drosophila FYEVFAKELP--PNQTHFVFEKLRHFTR YAIFVVAC-REEI
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.
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
Nobile S.; Semple R.K.; Carnielli V.P.;
J. Pediatr. Endocrinol. Metab. 25:363-366(2012)
Cited for: VARIANTS LEPRCH CYS-818 AND 890-ARG--SER-1382 DEL;
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J.; Kadowaki H.; Miya F.; Aizu K.; Kawamura T.; Miyata I.; Satomura K.; Ito T.; Hara K.; Tanaka M.; Ishiura H.; Tsuji S.; Suzuki K.; Takakura M.; Boroevich K.A.; Tsunoda T.; Yamauchi T.; Shojima N.; Kadowaki T.;
Cited for: VARIANTS RMS CYS-256; LEU-635; ILE-835; VAL-842; LEU-874; SER-878 AND 999-TYR--SER-1382 DEL; VARIANTS IRAN TYPE A ASP-489 AND MET-1054; VARIANTS LEPRCH PHE-657; ARG-659 AND CYS-818; CHARACTERIZATION OF VARIANTS LEPRCH PHE-657; ARG-659; CYS-818; THR-925; TRP-926 AND MET-937; CHARACTERIZATION OF VARIANTS RMS LEU-635; ILE-835; VAL-842; LEU-874 AND SER-878;
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.