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UniProtKB/Swiss-Prot Q8IW45: Variant p.Lys140Glu

ATP-dependent (S)-NAD(P)H-hydrate dehydratase
Gene: NAXD
Variant information Variant position: help 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Lysine (K) to Glutamate (E) at position 140 (K140E, p.Lys140Glu). 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 large size and basic (K) to medium size and acidic (E) 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

Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 140 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 SPELIVHPVLDSPNAVHEVE K WLPRLHALVVGPGLGRDDAL 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.

Rhesus macaque                SPELIVHPVL---------DSPS-AVDEVEKWLPRLHALVF

Mouse                         SPELIVHPVL---------DSSN-AVEEVEKWLPRLHALVV

Rat                           SPELIVHPVL---------DSSD-AVEEVEKWLPRLHALVV

Bovine                        SPELIVHPVL---------DSPE-AVRDVEQWLPRLHALVV

Zebrafish                     SPELIVHPVL---------DSPN-AVEEIEKWLPRLHSVVV

Caenorhabditis elegans        SPDLIVHPGM--------------TANSIIPKLSRMDAIVI

Drosophila                    SPDLIVHPVL---------DCVD-AVERIAPWLERLHVVVI

Slime mold                    SPDLIVHPIEK--------NDPS----DIIPWLLSLHVIVV



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.
Chain 1 – 347 ATP-dependent (S)-NAD(P)H-hydrate dehydratase
Domain 53 – 344 YjeF C-terminal
Binding site 153 – 153
Alternative sequence 1 – 221 Missing. In isoform 3.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.