Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61619: Variant p.Val67Gly

Protein transport protein Sec61 subunit alpha isoform 1
Gene: SEC61A1
Feedback?
Variant information Variant position: help 67 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 Valine (V) to Glycine (G) at position 67 (V67G, p.Val67Gly). 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 medium size and hydrophobic (V) to glycine (G) 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 ADTKD5; decreases in protein stability; partly confers novel Golgi subcellular location. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 476 The length of the canonical sequence.
Location on the sequence: help QIPLFGIMSSDSADPFYWMR V ILASNRGTLMELGISPIVTS 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                         QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS

                              QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS

Mouse                         QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS

Rat                           QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS

Bovine                        QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS

Zebrafish                     QIPLFGIMSSDSADPFYWMRVILASNRGTLMELGISPIVTS
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 – 476 Protein transport protein Sec61 subunit alpha isoform 1
Topological domain 54 – 76 Lumenal
Alternative sequence 1 – 120 Missing. In isoform 3.
Turn 66 – 70



Literature citations
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia.
Bolar N.A.; Golzio C.; Zivna M.; Hayot G.; Van Hemelrijk C.; Schepers D.; Vandeweyer G.; Hoischen A.; Huyghe J.R.; Raes A.; Matthys E.; Sys E.; Azou M.; Gubler M.C.; Praet M.; Van Camp G.; McFadden K.; Pediaditakis I.; Pristoupilova A.; Hodanova K.; Vyletal P.; Hartmannova H.; Stranecky V.; Hulkova H.; Baresova V.; Jedlickova I.; Sovova J.; Hnizda A.; Kidd K.; Bleyer A.J.; Spong R.S.; Vande Walle J.; Mortier G.; Brunner H.; Van Laer L.; Kmoch S.; Katsanis N.; Loeys B.L.;
Am. J. Hum. Genet. 99:174-187(2016)
Cited for: VARIANTS ADTKD5 GLY-67 AND ALA-185; CHARACTERIZATION OF VARIANTS ADTKD5 GLY-67 AND ALA-185; INVOLVEMENT IN ADTKD5; 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.