Variant position: 332 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 VPAQR---------ERAPVSGTQEKNKIR PRGQRDSSYYWEIEASEVMLS
Mouse VPAQR---------ERAPGSGTQEKNKIR PRGQRDSSYYWE
Rat VPAQR---------ERAPGSGTQEKNKIR PRGQRDSSYYWE
Bovine APAQR---------ERAPGSSTQEKNKIR PRGQRDSSYYWE
Chicken VPAQR---------ERAPGTNTQEKNKIR PRGQRDSSYYWE
Xenopus laevis APTHR---------EKAASSTGQEKNKIR ARGQRDSSYYWE
Fission yeast AVACKNGYGYLLSTDNSTGEILTSANLIY PEAL-EKGY---
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
220 – 334 Disordered
331 – 349 Interaction with PEBP1/RKIP
338 – 338 Phosphoserine; by PAK1, PAK2, PAK3 and PAK5
339 – 339 Phosphoserine; by PAK1, PAK2 and PAK3
340 – 340 Phosphotyrosine; by SRC
341 – 341 Phosphotyrosine; by SRC
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.