Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NXG2: Variant p.Pro164Ser

THUMP domain-containing protein 1
Gene: THUMPD1
Feedback?
Variant information Variant position: help 164 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 Proline (P) to Serine (S) at position 164 (P164S, p.Pro164Ser). 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 (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 NEDSOA; severely decreased tRNA binding; decreased thermal stability. Any additional useful information about the variant.


Sequence information Variant position: help 164 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 353 The length of the canonical sequence.
Location on the sequence: help ILQDMYKTKKKKTRVILRML P ISGTCKAFLEDMKKYAETFL 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                         ILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYAETFL

Mouse                         ILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYAETFL

Bovine                        ILQDIYKTKKKKTRVILRMLPISGTCKAFLEDMKKYAETFL

Drosophila                    IINDIATTGKSMSRFVLRLVPIEVVCRANMPDIITAAGELF
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 2 – 353 THUMP domain-containing protein 1
Domain 147 – 254 THUMP



Literature citations
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M.; Polevoda B.V.; Awayda K.M.; Tong N.; Lentini J.; Besnard T.; Deb W.; O'Rourke D.; Baptista J.; Ellard S.; Almannai M.; Hashem M.; Abdulwahab F.; Shamseldin H.; Al-Tala S.; Alkuraya F.S.; Leon A.; van Loon R.L.E.; Ferlini A.; Sanchini M.; Bigoni S.; Ciorba A.; van Bokhoven H.; Iqbal Z.; Al-Maawali A.; Al-Murshedi F.; Ganesh A.; Al-Mamari W.; Lim S.C.; Pais L.S.; Brown N.; Riazuddin S.; Bezieau S.; Fu D.; Isidor B.; Cogne B.; O'Connell M.R.;
Am. J. Hum. Genet. 109:587-600(2022)
Cited for: VARIANTS NEDSOA SER-45; 114-LEU--SER-353 DEL; 157-ARG--SER-353 DEL; SER-164; 236-GLN--SER-353 DEL AND LEU-258 DEL; INVOLVEMENT IN NEDSOA; CHARACTERIZATION OF VARIANTS NEDSOA SER-164 AND 236-GLN--SER-353 DEL; FUNCTION; SUBUNIT;
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.