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UniProtKB/Swiss-Prot Q9C0D9: Variant p.Arg112Pro

Ethanolaminephosphotransferase 1
Gene: SELENOI
Variant information

Variant position:  112
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Proline (P) at position 112 (R112P, p.Arg112Pro).
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:  Change from large size and basic (R) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In SPG81; loss of ethanolaminephosphotransferase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  112
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  397
The length of the canonical sequence.

Location on the sequence:   VVGILNFVAYTLDGVDGKQA  R RTNSSTPLGELFDHGLDSWS
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                         VVGILNF--------VAYTLDG----------VDGKQARRTNSSTPLG---------ELFDHGLDSWS

Mouse                         VVGILNF--------AAYTLDG----------VDGKQARRT

Bovine                        VVGILNF--------MAYTLDG----------VDGKQARRT

Baker's yeast                 SYALGVF--------LYQTFDG----------CDGVHARRI

Fission yeast                 IMALLKFKDQASVIRFYTEFNGKAFSQIDPETCHVLHIDKV

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.

TypePositionsDescription
Chain 2 – 397 Ethanolaminephosphotransferase 1


Literature citations

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed M.Y.; Al-Khayat A.; Al-Murshedi F.; Al-Futaisi A.; Chioza B.A.; Pedro Fernandez-Murray J.; Self J.E.; Salter C.G.; Harlalka G.V.; Rawlins L.E.; Al-Zuhaibi S.; Al-Azri F.; Al-Rashdi F.; Cazenave-Gassiot A.; Wenk M.R.; Al-Salmi F.; Patton M.A.; Silver D.L.; Baple E.L.; McMaster C.R.; Crosby A.H.;
Brain 140:547-554(2017)
Cited for: INVOLVEMENT IN SPG81; VARIANT SPG81 PRO-112; CHARACTERIZATION OF VARIANT SPG81 PRO-112; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; TOPOLOGY;

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.