Sequence information
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:
AKKLESSEENLSSEDEELPC
F QHLLFGKVNNIPSQSTRHST
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 AKKLESSEENLSSEDEELPCF QHLLFGKVNNIPSQSTRHST
Gorilla AKKLESSEENLSSEDEELPCF QHLLFGKVSNIPSQSTRHST
TKKLESSEENMSSEEEELPCF QHLIFGKVTNMPSQSTSHNA
Rhesus macaque AKKLESSEENLSSEDEELPCF QHLLFGKVSNIPSQTTRHST
Chimpanzee AKKLESSEENLSSEDEELPCF QHLLFGKVSNIPSQSTRHST
Mouse SRKLESSEESDSTEDEDLPCF QHLL-SRISNTP-ELTRCSS
Rat SRKLEFSEESDSTEDEDLPCF QHLL-SRVSSTP-ELTRCSS
Bovine AGKLE-SEETVSSEDEELPCF QQLLFGKVTSTLSPSTGCNT
Caenorhabditis elegans --------QKLAQKPEVFKST QNLI----------------
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 – 1863
Breast cancer type 1 susceptibility protein
Modified residue
1211 – 1211
Phosphoserine
Modified residue
1217 – 1217
Phosphoserine
Modified residue
1218 – 1218
Phosphoserine
Alternative sequence
64 – 1863
Missing. In isoform 2.
Alternative sequence
224 – 1365
Missing. In isoform 5.
Alternative sequence
264 – 1366
Missing. In isoform 3 and isoform 6.
Mutagenesis
1239 – 1239
S -> A. No effect on in vitro phosphorylation by ATR.
Literature citations
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;
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.