UniProtKB/Swiss-Prot Q9NSI6: Variant p.His175Tyr

Bromodomain and WD repeat-containing protein 1
Gene: BRWD1
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Variant information Variant position:

175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Histidine (H) to Tyrosine (Y) at position 175 (H175Y, p.His175Tyr). 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 polar (H) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 CILD51; uncertain significance; loss of expression in sperm flagella of a homozygous patient. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1472467905 [ dbSNP | Ensembl ]

Sequence information Variant position:

175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2320 The length of the canonical sequence.
Location on the sequence:

GKQLTGCSTFSTAFPGTMYQ H IKMHRRILGHLSAVYCVAFD 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                         GKQLTGCSTFSTAFPGTMYQHIKMHRRILGHLSAVYCVAFD

Mouse                         GRQLTGCSTFSTAFPGTMYQHIKMHRRILGHLSAVYCVAFD

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 – 2320	Bromodomain and WD repeat-containing protein 1
Alternative sequence	121 – 2320	Missing. In isoform D.

Literature citations
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
Guo T.; Tu C.F.; Yang D.H.; Ding S.Z.; Lei C.; Wang R.C.; Liu L.; Kang X.; Shen X.Q.; Yang Y.F.; Tan Z.P.; Tan Y.Q.; Luo H.;
Hum. Genet. 140:761-773(2021)
Cited for: INVOLVEMENT IN CILD51; VARIANTS CILD51 SER-56; TYR-175; SER-339 AND LEU-1858; CHARACTERIZATION OF VARIANTS CILD51 TYR-175 AND LEU-1858; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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.