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UniProtKB/Swiss-Prot Q13144: Variant p.Arg195His

Translation initiation factor eIF-2B subunit epsilon
Gene: EIF2B5
Variant information

Variant position:  195
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 Histidine (H) at position 195 (R195H, p.Arg195His).
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 polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In VWM; Cree leukoencephalopathy type.
Any additional useful information about the variant.

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



Sequence information

Variant position:  195
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  721
The length of the canonical sequence.

Location on the sequence:   EKNVSVMTMIFKESSPSHPT  R CHEDNVVVAVDSTTNRVLHF
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                         EKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHF

Mouse                         EKNVSVMTMVFKESSPSHPTRCHEDNVVMAVDSATNRVLHF

Rat                           EKNVSVMTMVFKESSPSHPTRCHEDNVVLAVDSTTNRILHF

Rabbit                        EKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSATNRILHF

Slime mold                    DKN-NIMTMVYKQASSTHRTRSKQDDTVIWCNRDTMQVVCY

Baker's yeast                 DKD-HISTMCLSKASTYPKTRT-IEPAAFVLDKSTSRCIYY

Fission yeast                 DKN-AIMTMVVREASPFHRTRARTESSVFVIDKKTSQCVHY

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 – 721 Translation initiation factor eIF-2B subunit epsilon
Beta strand 193 – 195


Literature citations

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Fogli A.; Wong K.; Eymard-Pierre E.; Wenger J.; Bouffard J.-P.; Goldin E.; Black D.N.; Boespflug-Tanguy O.; Schiffmann R.;
Ann. Neurol. 52:506-510(2002)
Cited for: VARIANT VWM HIS-195;

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.