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UniProtKB/Swiss-Prot Q9P2D1: Variant p.Leu2074Pro

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

Variant position:  2074
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 2074 (L2074P, p.Leu2074Pro).
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

Variant description:  In CHARGES and HH5; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  2074
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:   TLYRIELLRKIREQVLHHPQ  L GERLKLCQPSLDLPEWWECG
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                         TLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECG

Mouse                         TLYRIELLRKIREQVLHHPQLSDRLKLCQPSLDLPEWWECG

Chicken                       TLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECG

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.

TypePositionsDescription
Chain 1 – 2997 Chromodomain-helicase-DNA-binding protein 7
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

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;

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.