Variant position: 1361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1615 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 FRCASGQCVLIKQQCDSFPD CIDGSDELMCEITKPPSDDSP
Mouse FRCTSGQCVLIKQQCDSFPD CADGSDELMCEINKPPSDDIP
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.
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Toomes C.; Bottomley H.M.; Jackson R.M.; Towns K.V.; Scott S.; Mackey D.A.; Craig J.E.; Jiang L.; Yang Z.; Trembath R.; Woodruff G.; Gregory-Evans C.Y.; Gregory-Evans K.; Parker M.J.; Black G.C.M.; Downey L.M.; Zhang K.; Inglehearn C.F.;
Am. J. Hum. Genet. 74:721-730(2004)
Cited for: VARIANTS EVR4 MET-173; HIS-1168 AND GLY-1361; VARIANT VAL-1525;
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M.; Heeger S.; Bartels C.F.; Schelling D.K.;
Am. J. Hum. Genet. 77:741-753(2005)
Cited for: VARIANTS OPPG ASN-203; MET-244; PHE-307; TRP-348; GLN-353; LEU-356; LYS-390; GLU-400; ARG-404; ASN-434; LYS-460; GLN-494; VAL-520; TRP-570; ARG-610; ASN-683; HIS-733; TYR-1099; CYS-1113 AND ASP-1401; CHARACTERIZATION OF VARIANTS OPPG MET-244; LEU-356; LYS-390; ARG-404; ASN-434; VAL-520 AND ARG-610; CHARACTERIZATION OF VARIANTS EVR4 MET-173; GLN-570; HIS-1168; GLY-1361 AND LYS-1367; FUNCTION;
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.