Variant position: 2259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2997 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 EDEEEKLEDDDKSEESSQPE AGAVSRGKNFDEESNASMSTA
Mouse EDEEEKLEDDDKSEESSQPE AGAVSRGKTFDEESNASLSTA
Chicken EDEEEKLDDDDKSEESSQPE AGAVSQGKNFDEESNASMSTA
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.
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N.; Bergman J.E.; Swertz M.A.; Tranebjaerg L.; Lodahl M.; Schoots J.; Hofstra R.M.; van Ravenswaaij-Arts C.M.; Hoefsloot L.H.;
Hum. Mutat. 33:1149-1160(2012)
Cited for: VARIANTS CHARGES CYS-72; PRO-99; GLU-254; SER-439; GLY-699; CYS-840; ALA-942; ARG-975; SER-1020; VAL-1028; ARG-1031; SER-1081; ASN-1082; ARG-1101; ARG-1214; ARG-1251; PRO-1292; CYS-1317; ARG-1318; HIS-1345; ASP-1617; VAL-1619; SER-1684; VAL-1797; HIS-1812; GLY-1812; PRO-1815; PRO-2074; ARG-2091; GLY-2097; ILE-2102; ARG-2108; THR-2259; ALA-2286; THR-2312; ARG-2366 AND GLU-2464; VARIANTS LEU-37; ALA-93; LEU-167; LEU-238; GLY-286; PRO-524; ALA-558; LYS-596; SER-744; ASN-812; HIS-944; SER-1594; VAL-1672; GLY-1866; GLY-1972; TRP-2062; MET-2112; ASP-2118; THR-2225; ALA-2330; SER-2415; ASP-2488; CYS-2491; GLN-2653; VAL-2725; LEU-2750; VAL-2780; THR-2789 AND ALA-2857;
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S.; Sarfati J.; Leroy C.; Fouveaut C.; Parent P.; Metz C.; Wolczynski S.; Gerard M.; Bieth E.; Kurtz F.; Verier-Mine O.; Perrin L.; Archambeaud F.; Cabrol S.; Rodien P.; Hove H.; Prescott T.; Lacombe D.; Christin-Maitre S.; Touraine P.; Hieronimus S.; Dewailly D.; Young J.; Pugeat M.; Hardelin J.P.; Dode C.;
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014)
Cited for: VARIANTS HH5 LYS-685 INS; HIS-758; TRP-886; SER-944; SER-1030; GLU-1291; CYS-1345; PHE-1375; SER-1684; VAL-1838; GLY-1912; CYS-2065; PRO-2074; ARG-2108; THR-2259; GLY-2398 AND PRO-2833; VARIANTS SER-744; THR-2160 AND LEU-2527;
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.