UniProtKB/Swiss-Prot P00533: Variant p.His835Leu

Epidermal growth factor receptor
Gene: EGFR
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Variant information Variant position:

835 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Histidine (H) to Leucine (L) at position 835 (H835L, p.His835Leu). 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:

Change from medium size and polar (H) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Found in a lung cancer sample; more sensitive to gefitinib than wild-type. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs397517128 [ dbSNP | Ensembl ]

Sequence information Variant position:

835 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1210 The length of the canonical sequence.
Location on the sequence:

LNWCVQIAKGMNYLEDRRLV H RDLAARNVLVKTPQHVKITD 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                         LNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITD

Rhesus macaque                LNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITD

Mouse                         LNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITD

Drosophila                    LNWSTQIAKGMSYLEEKRLVHRDLAARNVLVQTPSLVKITD

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	25 – 1210	Epidermal growth factor receptor
Topological domain	669 – 1210	Cytoplasmic
Domain	712 – 979	Protein kinase
Active site	837 – 837	Proton acceptor
Binding site	855 – 855
Alternative sequence	406 – 1210	Missing. In isoform 2.
Alternative sequence	629 – 1210	Missing. In isoform 4.
Alternative sequence	706 – 1210	Missing. In isoform 3.
Mutagenesis	525 – 1210	Missing. Increased EGF binding.

Literature citations
High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan.
Huang S.F.; Liu H.P.; Li L.H.; Ku Y.C.; Fu Y.N.; Tsai H.Y.; Chen Y.T.; Lin Y.F.; Chang W.C.; Kuo H.P.; Wu Y.C.; Chen Y.R.; Tsai S.F.;
Clin. Cancer Res. 10:8195-8203(2004)
Cited for: VARIANTS ALA-709; GLY-709; CYS-719; SER-719; 746-GLU--ALA-750 DEL; 746-GLU--THR-751 DELINS ALA; 746-GLU--SER-752 DELINS ASP; 747-LEU--THR-751 DEL; ILE-768; MET-769; VAL-833; LEU-835; VAL-838; ARG-858 AND GLN-861; Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants.
Chen Y.R.; Fu Y.N.; Lin C.H.; Yang S.T.; Hu S.F.; Chen Y.T.; Tsai S.F.; Huang S.F.;
Oncogene 25:1205-1215(2006)
Cited for: CHARACTERIZATION OF VARIANTS ALA-709; GLY-709; SER-719; ILE-768; VAL-833; LEU-835; VAL-838; ARG-858 AND GLN-861;

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.