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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O94788: Variant p.Arg347His

Retinal dehydrogenase 2
Gene: ALDH1A2
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Variant information Variant position: help 347 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 Arginine (R) to Histidine (H) at position 347 (R347H, p.Arg347His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 DIH4; decreased expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 518 The length of the canonical sequence.
Location on the sequence: help FVEESIYEEFVRRSVERAKR R VVGSPFDPTTEQGPQIDKKQ 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                         FVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQ

Mouse                         FVEESIYEEFVKRSVERAKRRIVGSPFDPTTEQGPQIDKKQ

Rat                           FVEESIYEEFVKRSVERAKRRIVGSPFDPTTEQGPQIDKKQ

Chicken                       YVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQ
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 – 518 Retinal dehydrogenase 2
Modified residue 351 – 351 Phosphoserine



Literature citations
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Beecroft S.J.; Ayala M.; McGillivray G.; Nanda V.; Agolini E.; Novelli A.; Digilio M.C.; Dotta A.; Carrozzo R.; Clayton J.; Gaffney L.; McLean C.A.; Ng J.; Laing N.G.; Matteson P.; Millonig J.; Ravenscroft G.;
Hum. Mutat. 42:506-519(2021)
Cited for: INVOLVEMENT IN DIH4; VARIANTS DIH4 LYS-182; HIS-347; THR-383 AND TYR-461; CHARACTERIZATION OF VARIANTS DIH4 LYS-182; HIS-347; THR-383 AND TYR-461; FUNCTION; CATALYTIC ACTIVITY; ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
Leon E.; Nde C.; Ray R.S.; Preciado D.; Zohn I.E.;
Am. J. Med. Genet. A 191:90-99(2023)
Cited for: VARIANT DIH4 HIS-347; CHARACTERIZATION OF VARIANT DIH4 HIS-347;
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.