Home  |  Contact

UniProtKB/Swiss-Prot Q9HC07: Variant p.Gly304Arg

Transmembrane protein 165
Gene: TMEM165
Variant information

Variant position:  304
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 Glycine (G) to Arginine (R) at position 304 (G304R, p.Gly304Arg).
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 glycine (G) to large size and basic (R)
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 CDG2K; accumulates in Golgi compartment.
Any additional useful information about the variant.

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



Sequence information

Variant position:  304
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  324
The length of the canonical sequence.

Location on the sequence:   AVIGGRMIAQKISVRTVTII  G GIVFLAFAFSALFISPDSGF
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                         AVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPDSGF

Mouse                         AVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPESGF

Rat                           AVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPESGF

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 34 – 324 Transmembrane protein 165
Transmembrane 300 – 320 Helical


Literature citations

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Rosnoblet C.; Legrand D.; Demaegd D.; Hacine-Gherbi H.; de Bettignies G.; Bammens R.; Borrego C.; Duvet S.; Morsomme P.; Matthijs G.; Foulquier F.;
Hum. Mol. Genet. 22:2914-2928(2013)
Cited for: SUBCELLULAR LOCATION; MUTAGENESIS OF TYR-124; LEU-127 AND 209-LEU-LEU-210; CHARACTERIZATION OF VARIANTS CDG2K HIS-126; CYS-126 AND ARG-304; TOPOLOGY;

TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F.; Amyere M.; Jaeken J.; Zeevaert R.; Schollen E.; Race V.; Bammens R.; Morelle W.; Rosnoblet C.; Legrand D.; Demaegd D.; Buist N.; Cheillan D.; Guffon N.; Morsomme P.; Annaert W.; Freeze H.H.; Van Schaftingen E.; Vikkula M.; Matthijs G.;
Am. J. Hum. Genet. 91:15-26(2012)
Cited for: VARIANTS CDG2K HIS-126; CYS-126 AND ARG-304; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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.