Variant position: 1780 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 IFRGLEICCYGPFTNMPTDQ LEWMVQL---CGASVVKELSSFTL
Gorilla IFRGLDICCYGPFTNMPTDQ LEWMVQL---CGASVVKELSS
Rhesus macaque IFRGLEICCYGPFTNMPTDQ LEWMVQL---CGASVVKELSS
Chimpanzee IFRGLEICCYGPFTNMPTDQ LEWMVQL---CGASVVKELSS
Mouse LFKGLQVYCCEPFTNMPKDE LERMLQL---CGASVVKELPS
Rat LFEGLQIYCCEPFTNMPKDE LERMLQL---CGASVVKELPL
Bovine IFKGLEICCYGPFTNMPTDQ LEWMVQL---CGASVVKEPSS
Caenorhabditis elegans LFAGRRFMILRKFTMNPYFD YKQLIELVQQCGGEILSCYEN
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
1756 – 1855 BRCT 2
64 – 1863 Missing. In isoform 2.
1778 – 1863 DQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY -> GCPPNCGCAARCLDRGQWLPCNWADV. In isoform 6.
1777 – 1786
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
Ryu J.M.; Kang G.; Nam S.J.; Kim S.W.; Yu J.; Lee S.K.; Bae S.Y.; Park S.; Paik H.J.; Kim J.W.; Park S.S.; Lee J.E.; Kim S.W.;
Cited for: VARIANT BC PRO-1780; VARIANT BROVCA1 PRO-1780; VARIANT OC PRO-1780;
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.