UniProtKB/Swiss-Prot Q9P2D1: Variant p.Pro1594Ser

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

1594 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 Proline (P) to Serine (S) at position 1594 (P1594S, p.Pro1594Ser). 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 medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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

Sequence information Variant position:

1594 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:

MEFSDLESDSEEKPCAKPRR P QDKSQGYARSECFRVEKNLL 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                         MEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLL

Mouse                         MEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLL

Chicken                       MEFSDLESDSEEKPSTKPRRPQDKSQGYARSECFRVEKNLL

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.

Type	Positions	Description
Chain	1 – 2997	Chromodomain-helicase-DNA-binding protein 7
Region	1576 – 1600	Disordered
Compositional bias	1576 – 1599	Basic and acidic residues
Modified residue	1577 – 1577	Phosphoserine
Modified residue	1581 – 1581	Phosphoserine
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;

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.