Variant position: 674 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:
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 LLLLLVVALGIGLFMRRRHI VRKRTLRRL---LQERELVEPLTP
Rhesus macaque LLLLLVVALGIGLFMRRRHI VRKRTLRRL---LQERELVEP
Mouse LLFIVVVALGIGLFMRRRHI VRKRTLRRL---LQERELVEP
Drosophila VLVPTICILCVVTYICRQKQ KAKKETVKMTMALSGCEDSEP
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
25 – 1210 Epidermal growth factor receptor
669 – 1210 Cytoplasmic
678 – 678 Phosphothreonine; by PKC and PKD/PRKD1
693 – 693 Phosphothreonine; by PKD/PRKD1
406 – 1210 Missing. In isoform 2.
628 – 705 CTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLR -> PGNESLKAMLFCLFKLSSCNQSNDGSVSHQSGSPAAQESCLGWIPSLLPSEFQLGWGGCSHLHAWPSASVIITASSCH. In isoform 3.
629 – 1210 Missing. In isoform 4.
688 – 688 L -> A. Strongly reduced phosphorylation.
689 – 689 V -> A. Reduced autophosphorylation.
689 – 689 V -> M. Constitutively activated kinase.
690 – 690 E -> A. Reduced phosphorylation.
692 – 692 L -> AP. Strongly reduced phosphorylation.
693 – 693 T -> A. Increased phosphorylation.
693 – 693 T -> D. Strongly reduced phosphorylation.
694 – 694 P -> A. Strongly reduced phosphorylation.
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-98; ARG-266; LYS-521; ILE-674; GLY-962 AND PRO-988;
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.