Sequence information
Variant position: 81 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 347 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human IPPLSSTKHKGQD-GRIGVVGG CQEYTGAPYFAAISALKVGA
IPPLTTKKHKGQD-GRIGVVGG CQEYTGAPYFAAISAHKVG
Rhesus macaque IPPLSSTKHKGQD-GRIGVVGG CQEYTGAPYFAAISALKVG
Mouse VPALTSKKHKGQD-GRIGIVGG CQEYTGAPYFAGISALKVG
Rat VPALTSKKHKGQD-GRIGIVGG CQEYTGAPYFAGISALKVG
Bovine VPALTTKKHKGQD-GRIGVVGG CREYTGAPYFAAISALKVG
Zebrafish IPPLTSKKHKGQD-GRIGIIGG CQEYTGAPFFAAISALKVG
Caenorhabditis elegans LPKLTPHLRKGDC-GKMGVIGG SLEYTGAPYFAASSASRLG
Drosophila VPKLVNNKHKGQY-GRIGVIGG SLEYTGAPYFAAISSIRVG
Slime mold IPSLLNNLHKGQS-GRIAIMGG SKEYTGAPFFSGISSLKIG
Baker's yeast IPPLLPKFHKGQSGGRVCIIGG CEDYTGAPYFSANATALMG
Fission yeast IPPLLDTFHKGQA-GRVGVFGG CQHYTGAPYYSSMSSMLFG
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
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.