Variant position: 626 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 648 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 IELLQHSLPKINRSASEPSL HRAAHTEDINACTLTTSPRLP
Mouse IELLQHSLPKINRSASEPSL HRAAHTEDINACTLTTSPRLP
Rat IELLQHSLPKINRSASEPSL HRAAHTEDINACTLTTSPRLP
Bovine IELLQHSLPKINRSASEPSL HRAAHTEDINACTLTTSPRLP
Chicken IELLQHSLPKINRSASEPSL HRASHTEDINSCTLTST-RLP
Xenopus laevis IELLQHSLPKINRSALEPSL HRAAHTEDISSCALTST-RLP
Fission yeast -------------------- ---------------------
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 – 648 RAF proto-oncogene serine/threonine-protein kinase
621 – 621 Phosphoserine
642 – 642 Phosphoserine; by MAPK1
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany P.S.; Razzaque M.A.; Muthusami U.; Kunnoth S.; Edwards J.J.; Mulero-Navarro S.; Riess I.; Pardo S.; Sheng J.; Rani D.S.; Rani B.; Govindaraj P.; Flex E.; Yokota T.; Furutani M.; Nishizawa T.; Nakanishi T.; Robbins J.; Limongelli G.; Hajjar R.J.; Lebeche D.; Bahl A.; Khullar M.; Rathinavel A.; Sadler K.C.; Tartaglia M.; Matsuoka R.; Thangaraj K.; Gelb B.D.;
Nat. Genet. 46:635-639(2014)
Cited for: INVOLVEMENT IN CMD1NN; VARIANTS CMD1NN THR-237; ALA-310; ALA-332; PRO-603; ARG-626 AND MET-641; CHARACTERIZATION OF VARIANTS CMD1NN THR-237; ALA-310; ALA-332; PRO-603; ARG-626 AND MET-641;
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.