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UniProtKB/Swiss-Prot Q9NWX6: Variant p.Val55Ala

Probable tRNA(His) guanylyltransferase
Gene: THG1L
Variant information

Variant position:  55
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 Valine (V) to Alanine (A) at position 55 (V55A, p.Val55Ala).
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 medium size and hydrophobic (V) to small size and hydrophobic (A)
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 SCAR28; decreased mitochondrial fusion.
Any additional useful information about the variant.

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



Sequence information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  298
The length of the canonical sequence.

Location on the sequence:   FEYVRDFEADDTCLAHCWVV  V RLDGRNFHRFAEKHNFAKPN
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                         FEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPN

Mouse                         FEYVRNFEVQDTCLPHCWVVVRLDGRNFHRFAEEHNFAKPN

Rat                           FEYVRDFEVDDTCLPHCWVVVRLDGRNFHRFAEKHNFAKPN

Bovine                        FEYVRDFEADDTCLPHCWVVVRLDGRNFHRFAEKHSFIKPN

Drosophila                    FEYVKSFEQDDSILPNVWIVIRIDGKKFHKFSKTHDFEKPN

Slime mold                    YEYVKSFEQPDILLQNVWIVVRIDGRSFHKFTTKHDYAKPN

Baker's yeast                 FGYVRQFETHDVILPQCYIVVRIDGKKFHEFSKFYEFAKPN

Fission yeast                 FEYVKQYERLDRLLPETYIVIRIDGKGFHKFTKKHDFEKPN

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 1 – 298 Probable tRNA(His) guanylyltransferase
Metal binding 58 – 58 Magnesium 1; catalytic
Metal binding 58 – 58 Magnesium 2; catalytic
Metal binding 59 – 59 Magnesium 1; via carbonyl oxygen; catalytic
Mutagenesis 58 – 58 D -> A. Reduces activity by 99.5%.
Mutagenesis 63 – 63 H -> A. Slightly reduced enzyme activity.
Beta strand 51 – 59


Literature citations

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Edvardson S.; Elbaz-Alon Y.; Jalas C.; Matlock A.; Patel K.; Labbe K.; Shaag A.; Jackman J.E.; Elpeleg O.;
Neurogenetics 17:219-225(2016)
Cited for: INVOLVEMENT IN SCAR28; VARIANT SCAR28 ALA-55; CHARACTERIZATION OF VARIANT SCAR28 ALA-55; FUNCTION;

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker M.A.; Lerman-Sagie T.; Swoboda K.; Lev D.; Blumkin L.;
Am. J. Med. Genet. A 179:1575-1579(2019)
Cited for: VARIANT SCAR28 ALA-55;

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.