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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TC26: Variant p.Leu76Pro

Transmembrane protein 163
Gene: TMEM163
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Variant information Variant position: help 76 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 Leucine (L) to Proline (P) at position 76 (L76P, p.Leu76Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 HLD25; does not rescue developmental defects and myelin deficit in zebrafish morphants but results in a more severe phenotype; affects cell development and survival when expressed in oligodendroglial cells. Any additional useful information about the variant.


Sequence information Variant position: help 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 289 The length of the canonical sequence.
Location on the sequence: help ESGQFSDGLEDRGLLESSTR L KPHEAQNYRKKALWVSWFSI 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                         ESGQFSDGLEDRGLLESSTRLKPHEAQNYRKKALWVSWFSI

Mouse                         ESGQFSDGLEDRGLLESSTRLKPHEAQNYRKKALWVSWLSI

Rat                           ESGQFSDGFEDRGLLESSTRLKPHEAQNYRKKALWVSWLSI

Bovine                        ESGQFSDGLEDRGLLESSTRLKPHEAQNYRKKALWVSWFSI

Xenopus laevis                ESGQFSDVVENRGLLESSTRLKPHEAQNYRKKALWVSWLSI
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 – 289 Transmembrane protein 163
Topological domain 1 – 88 Cytoplasmic
Modified residue 57 – 57 Phosphoserine
Modified residue 61 – 61 Phosphoserine
Alternative sequence 1 – 208 Missing. In isoform 3.



Literature citations
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
do Rosario M.C.; Bey G.R.; Nmezi B.; Liu F.; Oranburg T.; Cohen A.S.A.; Coffman K.A.; Brown M.R.; Kiselyov K.; Waisfisz Q.; Flohil M.T.; Siddiqui S.; Rosenfeld J.A.; Iglesias A.; Girisha K.M.; Wolf N.I.; Padiath Q.S.; Shukla A.;
Brain 145:4202-4209(2022)
Cited for: VARIANTS HLD25 PRO-76; CYS-138 AND ARG-146; INVOLVEMENT IN HLD25; CHARACTERIZATION OF VARIANTS HLD25 PRO-76; CYS-138 AND ARG-146; Functional study of TMEM163 gene variants associated with hypomyelination leukodystrophy.
Yan H.; Yang S.; Hou Y.; Ali S.; Escobar A.; Gao K.; Duan R.; Kubisiak T.; Wang J.; Zhang Y.; Xiao J.; Jiang Y.; Zhang T.; Wu Y.; Burmeister M.; Wang Q.; Cuajungco M.P.; Wang J.;
Cells 11:0-0(2022)
Cited for: VARIANTS HLD25 ARG-76 AND PRO-76; CHARACTERIZATION OF VARIANTS HLD25 ARG-76 AND PRO-76; INVOLVEMENT IN HLD25; FUNCTION;
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.