Sequence information
Variant position: 710 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1255 The length of the canonical sequence.
Location on the sequence:
LLQETELVEPLTPSGAMPNQ
A QMRILKETELRKVKVLGSGA
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 LLQETELVEPLTPSGAMPNQA QMRILKETELRKVKVLGSGA
LLQETELVEPLTPSGAMPNQA QMRILKETELRKVKVLGSGA
Mouse LLQETELVEPLTPSGAVPNQA QMRILKETELRKLKVLGSGA
Rat LLQETELVEPLTPSGAMPNQA QMRILKETELRKVKVLGSGA
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
23 – 1255
Receptor tyrosine-protein kinase erbB-2
Topological domain
676 – 1255
Cytoplasmic
Mutagenesis
706 – 706
M -> A. No effect on isoform production.
Mutagenesis
712 – 712
M -> A. No effect on isoform production.
Literature citations
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le T.L.; Galmiche L.; Levy J.; Suwannarat P.; Hellebrekers D.M.; Morarach K.; Boismoreau F.; Theunissen T.E.; Lefebvre M.; Pelet A.; Martinovic J.; Gelot A.; Guimiot F.; Calleroz A.; Gitiaux C.; Hully M.; Goulet O.; Chardot C.; Drunat S.; Capri Y.; Bole-Feysot C.; Nitschke P.; Whalen S.; Mouthon L.; Babcock H.E.; Hofstra R.; de Coo I.F.; Tabet A.C.; Molina T.J.; Keren B.; Brooks A.; Smeets H.J.; Marklund U.; Gordon C.T.; Lyonnet S.; Amiel J.; Bondurand N.;
J. Clin. Invest. 131:0-0(2021)
Cited for: INVOLVEMENT IN VSCN2; VARIANT VSCN2 VAL-710; CHARACTERIZATION OF VARIANT VSCN2 VAL-710; SUBCELLULAR LOCATION; PHOSPHORYLATION;
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.