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UniProtKB/Swiss-Prot Q2YD98: Variant p.Cys32Arg

UV-stimulated scaffold protein A
Gene: UVSSA
Variant information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Cysteine (C) to Arginine (R) at position 32 (C32R, p.Cys32Arg).
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 (C) to large size and basic (R)
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:  UV-sensitive syndrome 3 (UVSS3) [MIM:614640]: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. {ECO:0000269|PubMed:22466610, ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}. 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 UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  709
The length of the canonical sequence.

Location on the sequence:   LTTSGEPRLNPEKMKELKKI  C KSSEEQLSRAYRLLIAQLTQ
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                         LTTSGEPRLNPEKMKELKK-ICKSSEEQLSRAYRLLIAQLTQ

Mouse                         LTTSGESQLNAQKMKELKK-ICKSSEEQLSHAYRLLITQLT

Rat                           LTTSGESQLNAQKMKELKK-ICKSSEEQLSHAYRLLMTQLT

Bovine                        LTTSGEPQLNPEKMKQLKK-ICKSSEEQLGHAYHLLMAQLS

Chicken                       LTTAGEPQLEPGRMKELKK-ICRSSEEHLSHAYHLLLTRLH

Xenopus tropicalis            LTTSGEPQLNPEKLKELKK-ICRSSDEHINHVYHLLMTQLN

Zebrafish                     LTTSGEPQLNQDKMKEVKK-ICRVSDSYIDHFYHLIMTQLN

Caenorhabditis elegans        LTDDGKLDFESIPYQNLQKEVANQDEEGCENVIEVLLDTTS

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 – 709 UV-stimulated scaffold protein A
Region 2 – 145 VHS-like
Alternative sequence 1 – 449 Missing. In isoform 2.


Literature citations

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nakazawa Y.; Sasaki K.; Mitsutake N.; Matsuse M.; Shimada M.; Nardo T.; Takahashi Y.; Ohyama K.; Ito K.; Mishima H.; Nomura M.; Kinoshita A.; Ono S.; Takenaka K.; Masuyama R.; Kudo T.; Slor H.; Utani A.; Tateishi S.; Yamashita S.; Stefanini M.; Lehmann A.R.; Yoshiura K.I.; Ogi T.;
Nat. Genet. 44:586-592(2012)
Cited for: FUNCTION; INVOLVEMENT IN UVSS3; MUTAGENESIS OF TRP-120 AND 157-ARG--ARG-159; VARIANT UVSS3 ARG-32; CHARACTERIZATION OF VARIANT UVSS3 ARG-32;

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.