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UniProtKB/Swiss-Prot Q9P2D1: Variant p.Leu1322Pro

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

Variant position:  1322
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 1322 (L1322P, p.Leu1322Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:16400610, ECO:0000269|PubMed:16763960, ECO:0000269|PubMed:18074359, ECO:0000269|PubMed:18445044, ECO:0000269|PubMed:19021638, ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:21554267, ECO:0000269|PubMed:21931733, ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537, ECO:0000269|PubMed:25818041}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CHARGES; unknown pathological significance.
Any additional useful information about the variant.

Sequence information

Variant position:  1322
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
Domain 1294 – 1464 Helicase C-terminal
Alternative sequence 572 – 2620 Missing. In isoform 4.
Alternative sequence 834 – 2620 Missing. In isoform 3.
Alternative sequence 1139 – 2997 Missing. In isoform 2.

Literature citations

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;

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.