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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00374: Variant p.Asp153Val

Dihydrofolate reductase
Gene: DHFR
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Variant information Variant position: help 153 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Aspartate (D) to Valine (V) at position 153 (D153V, p.Asp153Val). 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: help Change from medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In DHFRD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 153 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 187 The length of the canonical sequence.
Location on the sequence: help KLFVTRIMQDFESDTFFPEI D LEKYKLLPEYPGVLSDVQEE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KLFVTRIMQDFES---DTFFPEIDLEK-------YKL---LPEYPGVLSD-------VQEE

Mouse                         RLFVTRIMQEFES---DTFFPEIDLGK-------YKL---L

Rat                           RLFVTRIMQEFES---DTFFPEIDLEK-------YKL---L

Pig                           RLFVTRIMKEFES---DTFFPEIDLEK-------YKL---L

Bovine                        RLFVTRIMQEFES---DAFFPEIDFEK-------YKL---L

Chicken                       RLFVTRILHEFES---DTFFPEIDYKD-------FKL---L

Caenorhabditis elegans        EIHLTRIFKNFEA---DVHLKSLDFSK-------MEK----

Drosophila                    RLYITKIMQKFDC---DTFFPAIP-DS-------FRE---V

Baker's yeast                 LITKINPLDKNATPAMDTFLDAKKLEEVFSEQDPAQLKEFL

Fission yeast                 NLLFTRIHKEYPC---DSFFPFEPAESSDWVRKAHPE---L
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 187 Dihydrofolate reductase
Domain 4 – 185 DHFR



Literature citations
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;
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.