Variant position: 1226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1863 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 AKKLESSEENLSSEDEELPC FQHLLFGKVNNIPSQSTRHST
Gorilla AKKLESSEENLSSEDEELPC FQHLLFGKVSNIPSQSTRHST
Rhesus macaque AKKLESSEENLSSEDEELPC FQHLLFGKVSNIPSQTTRHST
Chimpanzee AKKLESSEENLSSEDEELPC FQHLLFGKVSNIPSQSTRHST
Mouse SRKLESSEESDSTEDEDLPC FQHLL-SRISNTP-ELTRCSS
Rat SRKLEFSEESDSTEDEDLPC FQHLL-SRVSSTP-ELTRCSS
Bovine AGKLE-SEETVSSEDEELPC FQQLLFGKVTSTLSPSTGCNT
Caenorhabditis elegans --------QKLAQKPEVFKS TQNLI----------------
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 – 1863 Breast cancer type 1 susceptibility protein
1211 – 1211 Phosphoserine
1217 – 1217 Phosphoserine
1218 – 1218 Phosphoserine
64 – 1863 Missing. In isoform 2.
224 – 1365 Missing. In isoform 5.
264 – 1366 Missing. In isoform 3 and isoform 6.
1239 – 1239 S -> A. No effect on in vitro phosphorylation by ATR.
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
Valarmathi M.T.; Sawhney M.; Deo S.S.V.; Shukla N.K.; Das S.N.;
Hum. Mutat. 23:205-205(2004)
Cited for: VARIANTS BC/BROVCA1 LYS-10; LYS-23; ILE-1187; HIS-1200 AND TYR-1217; VARIANTS BC ILE-1204 AND ASN-1207; VARIANTS BROVCA1 LEU-1226 AND GLY-1243; VARIANT ARG-1183;
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.