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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51398: Variant p.Cys395Tyr

Small ribosomal subunit protein mS29
Gene: DAP3
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Variant information Variant position: help 395 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 Cysteine (C) to Tyrosine (Y) at position 395 (C395Y, p.Cys395Tyr). 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 polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PRLTS7; likely pathogenic; decreased thermal stability; decreased GTPase activity. Any additional useful information about the variant.


Sequence information Variant position: help 395 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 398 The length of the canonical sequence.
Location on the sequence: help EGKKELLFLSNANPSLLERH C AYL 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                         EGKKELLFLSNANPSLLERHCAYL

Mouse                         EGRKELRFLSNCNPEQLERLCASL

Bovine                        EGKKELLFLSNRNPGLLERLCAYL
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 22 – 398 Small ribosomal subunit protein mS29
Helix 388 – 396



Literature citations
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith T.B.; Kopajtich R.; Demain L.A.M.; Rea A.; Thomas H.B.; Schiff M.; Beetz C.; Joss S.; Conway G.S.; Shukla A.; Yeole M.; Radhakrishnan P.; Azzouz H.; Ben Chehida A.; Elmaleh-Berges M.; Glasgow R.I.C.; Thompson K.; Olahova M.; He L.; Jenkinson E.M.; Jahic A.; Belyantseva I.A.; Barzik M.; Urquhart J.E.; O'Sullivan J.; Williams S.G.; Bhaskar S.S.; Carrera S.; Blakes A.J.M.; Banka S.; Yue W.W.; Ellingford J.M.; Houlden H.; Munro K.J.; Friedman T.B.; Taylor R.W.; Prokisch H.; O'Keefe R.T.; Newman W.G.;
Am. J. Hum. Genet. 112:59-74(2025)
Cited for: VARIANTS PRLTS7 ILE-132; ARG-380; LYS-392 AND TYR-395; CHARACTERIZATION OF VARIANTS PRLTS7 ILE-132; ARG-380; LYS-392 AND TYR-395; INVOLVEMENT IN PRLTS7; FUNCTION; CATALYTIC ACTIVITY;
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.