Variant position: 247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 282 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NTDSLDWALYDHLMDFLADR GVDNTFADELVELSTALEHQE
Mouse NTDSLDWALYDHLMDFLADR GVDNTFADELVELSTALEHQE
Rat NTDSLDWALYDHLMDFLADR GVDNTFADELVELSTALEHQE
Bovine NTDSLDWGLYDHLMDFLADR GVDNTFADELVELSTALEHQE
Sequence annotation in neighborhood: 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.
Type Positions Description
74 – 282 Complement component 1 Q subcomponent-binding protein, mitochondrial
245 – 247
Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies.
Feichtinger R.G.; Olahova M.; Kishita Y.; Garone C.; Kremer L.S.; Yagi M.; Uchiumi T.; Jourdain A.A.; Thompson K.; D'Souza A.R.; Kopajtich R.; Alston C.L.; Koch J.; Sperl W.; Mastantuono E.; Strom T.M.; Wortmann S.B.; Meitinger T.; Pierre G.; Chinnery P.F.; Chrzanowska-Lightowlers Z.M.; Lightowlers R.N.; DiMauro S.; Calvo S.E.; Mootha V.K.; Moggio M.; Sciacco M.; Comi G.P.; Ronchi D.; Murayama K.; Ohtake A.; Rebelo-Guiomar P.; Kohda M.; Kang D.; Mayr J.A.; Taylor R.W.; Okazaki Y.; Minczuk M.; Prokisch H.;
Am. J. Hum. Genet. 101:525-538(2017)
Cited for: FUNCTION; INVOLVEMENT IN COXPD33; VARIANTS COXPD33 SER-186; TYR-188 DEL; LEU-204; TRP-247; PHE-275 AND PRO-275;
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.