UniProtKB/SwissProt variant VAR

Variant information

Variant position:

81

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

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:

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:

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:

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:

Links to websites of interest for the variant.

Variant rs1566614549 [ dbSNP | Ensembl ]

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-GRIGVVGGCQEYTGAPYFAAISALKVGA

                              IPPLTTKKHKGQD-GRIGVVGGCQEYTGAPYFAAISAHKVG

Rhesus macaque                IPPLSSTKHKGQD-GRIGVVGGCQEYTGAPYFAAISALKVG

Mouse                         VPALTSKKHKGQD-GRIGIVGGCQEYTGAPYFAGISALKVG

Rat                           VPALTSKKHKGQD-GRIGIVGGCQEYTGAPYFAGISALKVG

Bovine                        VPALTTKKHKGQD-GRIGVVGGCREYTGAPYFAAISALKVG

Zebrafish                     IPPLTSKKHKGQD-GRIGIIGGCQEYTGAPFFAAISALKVG

Caenorhabditis elegans        LPKLTPHLRKGDC-GKMGVIGGSLEYTGAPYFAASSASRLG

Drosophila                    VPKLVNNKHKGQY-GRIGVIGGSLEYTGAPYFAAISSIRVG

Slime mold                    IPSLLNNLHKGQS-GRIAIMGGSKEYTGAPFFSGISSLKIG

Baker's yeast                 IPPLLPKFHKGQSGGRVCIIGGCEDYTGAPYFSANATALMG

Fission yeast                 IPPLLDTFHKGQA-GRVGVFGGCQHYTGAPYYSSMSSMLFG

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IW45: Variant p.Gly81Ser