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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N766: Variant p.Ala144Thr

ER membrane protein complex subunit 1
Gene: EMC1
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Variant information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Alanine (A) to Threonine (T) at position 144 (A144T, p.Ala144Thr). 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 Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Found in patients with retinitis pigmentosa; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 993 The length of the canonical sequence.
Location on the sequence: help DSGSFQALGLVGLQESVRYI A VLKKTTLALHHLSSGHLKWV 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                         DSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWV

Mouse                         DTGSFQALGLVGLQESVRYIAVLKKTTLTLHHLSSGHLKWV

Chicken                       DTGSFQTASLVGLQDAVKYVAVLKKAAISLHYLSNGHQKWV

Xenopus laevis                EPGSFQAVSFAGSQDTARYVAVLKNSALSLYFLSNGHLKWS

Baker's yeast                 DSNDHNAMVCV--------------------NSSSNH--WQ

Fission yeast                 ADGKGKLFEVN----------------KGFVYLNPHTRKFI

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 23 – 993 ER membrane protein complex subunit 1
Topological domain 23 – 962 Lumenal
Beta strand 142 – 146



Literature citations
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L.; Alrashed M.; Anazi S.; Alkuraya H.; Khan A.O.; Al-Owain M.; Al-Zahrani J.; Al-Abdi L.; Hashem M.; Al-Tarimi S.; Sebai M.A.; Shamia A.; Ray-Zack M.D.; Nassan M.; Al-Hassnan Z.N.; Rahbeeni Z.; Waheeb S.; Alkharashi A.; Abboud E.; Al-Hazzaa S.A.; Alkuraya F.S.;
Genome Res. 23:236-247(2013)
Cited for: VARIANT THR-144;
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.