Variant position: 153 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 KLFVTRIMQ-----DFESDTFFPEI DLEK-------YKL---LPEYPGVLSD-------VQEE
Mouse RLFVTRIMQ-----EFESDTFFPEI DLGK-------YKL--
Rat RLFVTRIMQ-----EFESDTFFPEI DLEK-------YKL--
Pig RLFVTRIMK-----EFESDTFFPEI DLEK-------YKL--
Bovine RLFVTRIMQ-----EFESDAFFPEI DFEK-------YKL--
Chicken RLFVTRILH-----EFESDTFFPEI DYKD-------FKL--
Caenorhabditis elegans EIHLTRIFK-----NFEADVHLKSL DFSK--------ME--
Drosophila RLYITKIMQ-----KFDCDTFFPAI P-DS-------FRE--
Baker's yeast HWLITKINPLDKNATPAMDTFLDAK KLEEVFSEQDPAQLKE
Fission yeast NLLFTRIHK-----EYPCDSFFPFE PAESSDWVRKAHPE--
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
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H.; Smith D.E.; Blom H.; Blau N.; Bode H.; Holzmann K.; Pannicke U.; Hopfner K.P.; Rump E.M.; Ayric Z.; Kohne E.; Debatin K.M.; Smulders Y.; Schwarz K.;
Am. J. Hum. Genet. 88:226-231(2011)
Cited for: VARIANT DHFRD VAL-153;
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