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:
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-I CKSSEEQLSRAYRLLIAQLTQ
Mouse LTTSGESQLNAQKMKELKK-I CKSSEEQLSHAYRLLITQLT
Rat LTTSGESQLNAQKMKELKK-I CKSSEEQLSHAYRLLMTQLT
Bovine LTTSGEPQLNPEKMKQLKK-I CKSSEEQLGHAYHLLMAQLS
Chicken LTTAGEPQLEPGRMKELKK-I CRSSEEHLSHAYHLLLTRLH
Xenopus tropicalis LTTSGEPQLNPEKLKELKK-I CRSSDEHINHVYHLLMTQLN
Zebrafish LTTSGEPQLNQDKMKEVKK-I CRVSDSYIDHFYHLIMTQLN
Caenorhabditis elegans LTDDGKLDFESIPYQNLQKEV ANQDEEGCENVIEVLLDTTS
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
1 – 709 UV-stimulated scaffold protein A
2 – 145 VHS-like
1 – 449 Missing. In isoform 2.
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;
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.