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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21860: Variant p.Val899Met

Receptor tyrosine-protein kinase erbB-3
Gene: ERBB3
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Variant information Variant position: help 899 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Valine (V) to Methionine (M) at position 899 (V899M, p.Val899Met). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In VSCN1; almost complete loss of ERBB2 and ERBB3 phosphorylation in the presence or in the absence of NRG1 stimulation, suggesting alteration of downstream signaling; does not affect the subcellular localization at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 899 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1342 The length of the canonical sequence.
Location on the sequence: help ALESIHFGKYTHQSDVWSYG V TVWELMTFGAEPYAGLRLAE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ALESIHFGKYTHQSDVWSYGVTVWELMTFGAEPYAGLRLAE

Mouse                         ALESIHFGKYTHQSDVWSYGVTVWELMTFGAEPYAGLRLAE

Rat                           ALESIHFGKYTHQSDVWSYGVTVWELMTFGAEPYAGLRLAE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 1342 Receptor tyrosine-protein kinase erbB-3
Topological domain 665 – 1342 Cytoplasmic
Domain 709 – 966 Protein kinase
Alternative sequence 184 – 1342 Missing. In isoform 2.
Alternative sequence 332 – 1342 Missing. In isoform 3.
Helix 890 – 905



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 VSCN1; VARIANTS VSCN1 PRO-787; SER-873; MET-899 AND ARG-932; CHARACTERIZATION OF VARIANTS VSCN1 PRO-787; SER-873; MET-899 AND ARG-932; 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.