Variant position: 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 187 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 SIPEKNRPLKGRINLVLSRE------- LKEP--PQGAHFLSRSLDDALKL
Mouse SIPEKNRPLKDRINIVLSRE------- LKEP--PRGAHFLA
Rat SIPEKNRPLKDRINIVLSRE------- LKEP--PQGAHFLA
Pig SIPEKNRPLKDRINIVLSRE------- LKEP--PQGAHFLA
Bovine SIPEKNRPLKDRINIVLSRE------- LKEP--PKGAHFLA
Chicken SIPEKNRPLKDRINIVLSRE------- LKEA--PKGAHYLS
Caenorhabditis elegans SIPVTRRPLAGRLNIVLSRQ------- LPAQ--KSDDYIVV
Drosophila GVPESKRPLPDRLNIVLSTT------- LQESDLPKGV-LLC
Baker's yeast SIPPKFRPLPNRMNVIISRS------- FKDDFVHDKERSIV
Fission yeast SLPKKNRPLKDRINIVITRNSNYNFGL TKKEKMPENL-YAA
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
1 – 187 Dihydrofolate reductase
4 – 185 DHFR
65 – 65 Substrate
71 – 71 Substrate
65 – 65 N -> F. Increases affinity for dihydrofolate about 3-fold. No effect on affinity for NADPH.
65 – 65 N -> S. Increases affinity for dihydrofolate about 15-fold. No effect on affinity for NADPH.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S.; Blom H.J.; Walter J.; Aziz M.; Urquhart J.; Clouthier C.M.; Rice G.I.; de Brouwer A.P.; Hilton E.; Vassallo G.; Will A.; Smith D.E.; Smulders Y.M.; Wevers R.A.; Steinfeld R.; Heales S.; Crow Y.J.; Pelletier J.N.; Jones S.; Newman W.G.;
Am. J. Hum. Genet. 88:216-225(2011)
Cited for: TISSUE SPECIFICITY; VARIANT DHFRD PHE-80;
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