Sequence information
Variant position: 1275 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1308 The length of the canonical sequence.
Location on the sequence:
HPDYLQEYSTKYFYKQNGRI
R PIVAENPEYLSEFSLKPGTV
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 HPDYLQEYSTKYFYKQNGRIR PIVAENPEYLSEFSLKPGTV
Mouse HPDYLQEYSTKYFYKQNGRIR PIVAENPEYLSEFSLKPGTM
Rat HPDYLQEYSTKYFYKQNGRIR PIVAENPEYLSEFSLKPGTM
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
26 – 1308
Receptor tyrosine-protein kinase erbB-4
Chain
676 – 1308
ERBB4 intracellular domain
Topological domain
676 – 1308
Cytoplasmic
Modified residue
1258 – 1258
Phosphotyrosine; by autocatalysis
Modified residue
1284 – 1284
Phosphotyrosine; by autocatalysis
Literature citations
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y.; Fukuda Y.; Yoshimura J.; Toyoda A.; Kurppa K.; Moritoyo H.; Belzil V.V.; Dion P.A.; Higasa K.; Doi K.; Ishiura H.; Mitsui J.; Date H.; Ahsan B.; Matsukawa T.; Ichikawa Y.; Moritoyo T.; Ikoma M.; Hashimoto T.; Kimura F.; Murayama S.; Onodera O.; Nishizawa M.; Yoshida M.; Atsuta N.; Sobue G.; Fifita J.A.; Williams K.L.; Blair I.P.; Nicholson G.A.; Gonzalez-Perez P.; Brown R.H. Jr.; Nomoto M.; Elenius K.; Rouleau G.A.; Fujiyama A.; Morishita S.; Goto J.; Tsuji S.; Nakamura R.; Watanabe H.; Izumi Y.; Kaji R.; Morita M.; Ogaki K.; Taniguchi A.; Aiba I.; Mizoguchi K.; Okamoto K.; Hasegawa K.; Aoki M.; Kawata A.; Nakano I.; Abe K.; Oda M.; Konagaya M.; Imai T.; Nakagawa M.; Fujita T.; Sasaki H.; Nishizawa M.;
Am. J. Hum. Genet. 93:900-905(2013)
Cited for: VARIANTS ALS19 GLN-927 AND TRP-1275; CHARACTERIZATION OF VARIANTS ASL19 GLN-927 AND TRP-1275;
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.