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UniProtKB/Swiss-Prot Q9P2D1: Variant p.Gly744Ser

Chromodomain-helicase-DNA-binding protein 7
Gene: CHD7
Variant information

Variant position:  744
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glycine (G) to Serine (S) at position 744 (G744S, p.Gly744Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  744
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2997
The length of the canonical 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.




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.

Chain 1 – 2997 Chromodomain-helicase-DNA-binding protein 7
Region 498 – 816 Disordered
Compositional bias 733 – 765 Basic and acidic residues
Modified residue 725 – 725 Phosphoserine
Alternative sequence 572 – 2620 Missing. In isoform 4.

Literature citations

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;

Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels C.F.; Scacheri C.; White L.; Scacheri P.C.; Bale S.;
Genet. Test. Mol. Biomarkers 14:881-891(2010)
Cited for: VARIANTS CHARGES ILE-41; ARG-86; MET-238; ALA-558; THR-699; ASN-728; ASP-871; ALA-894; THR-907; MET-917; LYS-938; HIS-944; GLN-947; VAL-1028; GLN-1203; ASP-1208; PRO-1294; PRO-1322; CYS-1345; HIS-1395; ARG-1416; GLN-1457; CYS-1576; SER-1617; SER-1684; ARG-1739 GLU-1791; GLY-1866; THR-1950; HIS-2065; GLY-2084; ASP-2103; ASN-2116; CYS-2319; SER-2495; SER-2683; CYS-2702; THR-2733 AND MET-2931; VARIANTS THR-103; ARG-201; VAL-340; ALA-369; LEU-466; VAL-522; VAL-636; SER-744; THR-2160; THR-2225; ALA-2330; LEU-2527; VAL-2806; ALA-2857 AND PHE-2984;

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;

Unique phenotype in a patient with CHARGE syndrome.
Jain S.; Kim H.G.; Lacbawan F.; Meliciani I.; Wenzel W.; Kurth I.; Sharma J.; Schoeneman M.; Ten S.; Layman L.C.; Jacobson-Dickman E.;
Int. J. Pediatr. Endocrinol. 2011:11-11(2011)
Cited for: VARIANT SER-744;

Disclaimer: 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.