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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BVQ7: Variant p.Met669Arg

ATPase family gene 2 protein homolog B
Gene: AFG2B
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Variant information Variant position: help 669 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 Methionine (M) to Arginine (R) at position 669 (M669R, p.Met669Arg). 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 (M) to large size and basic (R) 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 NEDHLS. Any additional useful information about the variant.


Sequence information Variant position: help 669 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 753 The length of the canonical sequence.
Location on the sequence: help YIPPPDHKGRLSILKVCTKT M PIGPDVSLENLAAETCFFSG 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                         YIPPPDHKGRLSILKVCTKTMP-IGPDVSLENLAAETCFFSG

Mouse                         YVPPPDQEGRLSILKVCTNNMP-VGPDVSLENLAAETCFFS

Rat                           YVPPPDREGRLSILKVCTNNMP-IGLNVSLENLAAETCYFS

Bovine                        YIPPPDEKGRLSILKVCTKNTP-MGPDVSLEKVAAETCFFS

Xenopus tropicalis            -----------SLMKL----MPWWGPDQKVEQ---------
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 – 753 ATPase family gene 2 protein homolog B
Alternative sequence 393 – 753 Missing. In isoform 3.
Alternative sequence 621 – 753 Missing. In isoform 2.



Literature citations
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard E.M.; Bakhtiari S.; Marsh A.P.L.; Kaiyrzhanov R.; Wagner M.; Shetty S.; Pagnozzi A.; Nordlie S.M.; Guida B.S.; Cornejo P.; Magee H.; Liu J.; Norton B.Y.; Webster R.I.; Worgan L.; Hakonarson H.; Li J.; Guo Y.; Jain M.; Blesson A.; Rodan L.H.; Abbott M.A.; Comi A.; Cohen J.S.; Alhaddad B.; Meitinger T.; Lenz D.; Ziegler A.; Kotzaeridou U.; Brunet T.; Chassevent A.; Smith-Hicks C.; Ekstein J.; Weiden T.; Hahn A.; Zharkinbekova N.; Turnpenny P.; Tucci A.; Yelton M.; Horvath R.; Gungor S.; Hiz S.; Oktay Y.; Lochmuller H.; Zollino M.; Morleo M.; Marangi G.; Nigro V.; Torella A.; Pinelli M.; Amenta S.; Husain R.A.; Grossmann B.; Rapp M.; Steen C.; Marquardt I.; Grimmel M.; Grasshoff U.; Korenke G.C.; Owczarek-Lipska M.; Neidhardt J.; Radio F.C.; Mancini C.; Claps Sepulveda D.J.; McWalter K.; Begtrup A.; Crunk A.; Guillen Sacoto M.J.; Person R.; Schnur R.E.; Mancardi M.M.; Kreuder F.; Striano P.; Zara F.; Chung W.K.; Marks W.A.; van Eyk C.L.; Webber D.L.; Corbett M.A.; Harper K.; Berry J.G.; MacLennan A.H.; Gecz J.; Tartaglia M.; Salpietro V.; Christodoulou J.; Kaslin J.; Padilla-Lopez S.; Bilguvar K.; Munchau A.; Ahmed Z.M.; Hufnagel R.B.; Fahey M.C.; Maroofian R.; Houlden H.; Sticht H.; Mane S.M.; Rad A.; Vona B.; Jin S.C.; Haack T.B.; Makowski C.; Hirsch Y.; Riazuddin S.; Kruer M.C.;
Am. J. Hum. Genet. 108:2006-2016(2021)
Cited for: INVOLVEMENT IN DFNB119; INVOLVEMENT IN NEDHLS; VARIANTS DFNB119 VAL-176 AND MET-466; VARIANTS NEDHLS ALA-26; GLY-29; PRO-41; TRP-64; TYR-66; LEU-71; HIS-172; GLU-245; SER-360; GLU-364; ILE-400; PRO-438; ASP-519; SER-561; 609-SER--ILE-753 DEL; 640-ARG--ILE-753 DEL; LYS-658; ARG-669 AND VAL-689; 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.