Variant position: 361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 409 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 PQII-KHKALDLDDRWQFKRS RLLDTQDKRSK-ADTGSSNQDK
Mouse AQLR-KRKALDTHDQGSVKRP RLLETESRPSV-AASRSRHQ
Rat APLS-KRKALDTQDQWPAKRP RLLESESRPG--PAFRGSHQ
Bovine ALLVTKRKASDTDDGWQFKKS RLGGIQNRPSK-TDTNSSNQ
Chicken KLVTKRKVRVTTTGPKSLKKL RSLQLDQELH--QDEEDCNQ
Xenopus laevis RQAGKRKAHSKQLGKTSTKKS RLPPFQRPQSDNSDSESSDS
Xenopus tropicalis RQAGKRKACSKQLGRTLTKKS RLLQLQKQHSQNGDSEGSDS
Zebrafish L----RKKCLVASFPQRLKRK R--------------KTREV
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 – 409 BRCA1-A complex subunit Abraxas 1
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
Solyom S.; Aressy B.; Pylkas K.; Patterson-Fortin J.; Hartikainen J.M.; Kallioniemi A.; Kauppila S.; Nikkila J.; Kosma V.M.; Mannermaa A.; Greenberg R.A.; Winqvist R.;
Sci. Transl. Med. 4:122ra23-122ra23(2012)
Cited for: FUNCTION; VARIANTS THR-348 AND ASN-373; VARIANT BC GLN-361; CHARACTERIZATION OF VARIANT BC GLN-361;
Mislocalization of BRCA1-complex due to ABRAXAS Arg361Gln mutation.
Kumar R.V.; Siddiqui Q.; Singh N.; Waghmare S.K.; Varma A.K.;
J. Biomol. Struct. Dyn. 33:1291-1301(2015)
Cited for: CHARACTERIZATION OF VARIANT BC GLN-361;
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.