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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76071: Variant p.Asp171Gly

Probable cytosolic iron-sulfur protein assembly protein CIAO1
Gene: CIAO1
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Variant information Variant position: help 171 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 Aspartate (D) to Glycine (G) at position 171 (D171G, p.Asp171Gly). 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 acidic (D) to glycine (G) 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 MMDS10; likely pathogenic; affects the interaction with components of cytosolic [4Fe-4S] assembly targeting complex; decreased interaction with CIAO2B and MMS19; loss of interaction with ERCC2 and POLD1; decreased interaction with HSC20. Any additional useful information about the variant.


Sequence information Variant position: help 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 339 The length of the canonical sequence.
Location on the sequence: help QDVKHVVWHPSQELLASASY D DTVKLYREEEDDWVCCATLE 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                         QDVKHVVWHPSQELLASASYDDTVKLYREE--EDDWVCCATLE

Mouse                         QDVKHVVWHPSQELLASASYDDTVKLYQEE--GDDWVCCAT

Rat                           QDVKHVVWHPSQELLASASYDDTVKLYQEE--GDDWVCCAT

Bovine                        QDVKHVVWHPSQELLASASYDDTVKLYREE--EDDWVCCAT

Xenopus tropicalis            QDVKHVVWHPNQELLASASYDDSVKLYREE--EDDWVCCAT

Zebrafish                     QDVKHVVWHPTQELLASASYDNKICIYKEE--DDDWECRAT

Caenorhabditis elegans        QDVKQVAWHPTEDLLVSCSYDSSIRFYRFD--GEDWVTQQK

Drosophila                    QDVKRVVWHPTKDILASASYDNTIKMFAEEPIDNDWDCTAT

Slime mold                    QDIKCVLWHPNEELLASSSYDDTIKFWKDI--DGDWECINT

Baker's yeast                 QDVKHVIWHPSEALLASSSYDDTVRIWKDY--DDDWECVAV
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 – 339 Probable cytosolic iron-sulfur protein assembly protein CIAO1
Repeat 148 – 187 WD 4



Literature citations
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
Maio N.; Orbach R.; Zaharieva I.T.; Toepf A.; Donkervoort S.; Munot P.; Mueller J.; Willis T.; Verma S.; Peric S.; Krishnakumar D.; Sudhakar S.; Foley A.R.; Silverstein S.; Douglas G.; Pais L.; DiTroia S.; Grunseich C.; Hu Y.; Sewry C.; Sarkozy A.; Straub V.; Muntoni F.; Rouault T.A.; Boennemann C.G.;
J. Clin. Invest. 134:0-0(2024)
Cited for: VARIANTS MMDS10 TRP-65; GLY-171; LEU-251 AND PRO-302; CHARACTERIZATION OF VARIANTS MMDS10 TRP-65; GLY-171; LEU-251 AND PRO-302; FUNCTION; INVOLVEMENT IN MMDS10; 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.