UniProtKB/Swiss-Prot P00533: Variant p.Leu1034Arg

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

1034 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 Leucine (L) to Arginine (R) at position 1034 (L1034R, p.Leu1034Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs34352568 [ dbSNP | Ensembl ]

Sequence information Variant position:

1034 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:

DEYLIPQQGFFSSPSTSRTP L LSSLSATSNNSTVACIDRNG 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                         DEYLIPQQGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNG

Rhesus macaque                DEYLIPQQGFFSSPSTSRTPLLSSLSATSNNSTVACIDRNG

Mouse                         DEYLIPQQGFFNSPSTSRTPLLSSLSATSNNSTVACINRNG

Drosophila                    DDYLQPKAAPGPSHRTDCTDEMPKLNRYCKDPS----NKNS

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
Site	1016 – 1016	Important for interaction with PIK3C2B
Modified residue	1016 – 1016	Phosphotyrosine; by autocatalysis
Modified residue	1026 – 1026	Phosphoserine
Modified residue	1039 – 1039	Phosphoserine
Modified residue	1041 – 1041	Phosphothreonine
Modified residue	1042 – 1042	Phosphoserine
Lipidation	1049 – 1049	S-palmitoyl cysteine
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.
Mutagenesis	1016 – 1016	Y -> F. 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.
Mutagenesis	1049 – 1049	C -> A. Decreased palmitoylation.

Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-521; ARG-1034 AND VAL-1210;

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.