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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IW45: Variant p.Gly81Ser

ATP-dependent (S)-NAD(P)H-hydrate dehydratase
Gene: NAXD
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Variant information Variant position: help 81 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 Glycine (G) to Serine (S) at position 81 (G81S, p.Gly81Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 PEBEL2; decreased reaction kinetics for ATP-dependent NAD(P)H-hydrate dehydratase activity; decreased affinity for (6S)-NADHX; changed ATP-dependent NAD(P)H-hydrate dehydratase activity; thermostability assays show that activity is lost at temperatures above 30 degrees Celsius. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 81 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 347 The length of the canonical sequence.
Location on the sequence: help IPPLSSTKHKGQDGRIGVVG G CQEYTGAPYFAAISALKVGA 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                         IPPLSSTKHKGQD-GRIGVVGGCQEYTGAPYFAAISALKVGA

                              IPPLTTKKHKGQD-GRIGVVGGCQEYTGAPYFAAISAHKVG

Rhesus macaque                IPPLSSTKHKGQD-GRIGVVGGCQEYTGAPYFAAISALKVG

Mouse                         VPALTSKKHKGQD-GRIGIVGGCQEYTGAPYFAGISALKVG

Rat                           VPALTSKKHKGQD-GRIGIVGGCQEYTGAPYFAGISALKVG

Bovine                        VPALTTKKHKGQD-GRIGVVGGCREYTGAPYFAAISALKVG

Zebrafish                     IPPLTSKKHKGQD-GRIGIIGGCQEYTGAPFFAAISALKVG

Caenorhabditis elegans        TPHL----RKGDC-GKMGVIGGSLEYTGAPYFAASSASRLG

Drosophila                    VPKLVNNKHKGQY-GRIGVIGGSLEYTGAPYFAAISSIRVG

Slime mold                    IPSLLNNLHKGQS-GRIAIMGGSKEYTGAPFFSGISSLKIG

Baker's yeast                 IPPLLPKFHKGQSGGRVCIIGGCEDYTGAPYFSANATALMG

Fission yeast                 IPPLLDTFHKGQA-GRVGVFGGCQHYTGAPYYSSMSSMLFG
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 – 347 ATP-dependent (S)-NAD(P)H-hydrate dehydratase
Domain 53 – 344 YjeF C-terminal
Modified residue 85 – 85 Phosphotyrosine
Alternative sequence 1 – 221 Missing. In isoform 3.
Alternative sequence 1 – 129 MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVL -> MLPDGPGSSLWGNPGLQTS. In isoform 4.



Literature citations
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen N.J.; Guo Y.; Rankin J.; Paczia N.; Becker-Kettern J.; Kremer L.S.; Pyle A.; Conrotte J.F.; Ellaway C.; Procopis P.; Prelog K.; Homfray T.; Baptista J.; Baple E.; Wakeling M.; Massey S.; Kay D.P.; Shukla A.; Girisha K.M.; Lewis L.E.S.; Santra S.; Power R.; Daubeney P.; Montoya J.; Ruiz-Pesini E.; Kovacs-Nagy R.; Pritsch M.; Ahting U.; Thorburn D.R.; Prokisch H.; Taylor R.W.; Christodoulou J.; Linster C.L.; Ellard S.; Hakonarson H.;
Brain 142:50-58(2019)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; INVOLVEMENT IN PEBEL2; VARIANTS PEBEL2 SER-81 AND CYS-326; CHARACTERIZATION OF VARIANTS PEBEL2 SER-81 AND CYS-326;
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.