UniProtKB/SwissProt variant VAR

Variant information

Variant position:

128

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 Aspartate (D) to Asparagine (N) at position 128 (D128N, p.Asp128Asn).

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 medium size and acidic (D) to medium size and polar (N)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

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:

In GA2B; decreased protein stability.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894678 [ dbSNP | Ensembl ]

Sequence information

Variant position:

128

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

Protein sequence length:

255

The length of the canonical sequence.

Location on the sequence:

LAKLAEKEKVDLVLLGKQAI D DDCNQTGQMTAGFLDWPQGT

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                         LAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGT

Mouse                         LAKLAEKEKVDLLFLGKQAIDDDCNQTGQMTAGLLDWPQGT

Rat                           LAKLAEKEKVDLLFLGKQAIDDDCNQTGQMTAGLLDWPQGT

Pig                           LAKLAQKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGT

Bovine                        LAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGT

Slime mold                    LKELVDKEKPNLIILGKQAIDDDCNQTAQMLAGLLNWPQAT

Baker's yeast                 LKAVVEKKGSNLVLMGKQAIDDDCNNTGQMLAGLLNWPQAT

Fission yeast                 LKATVEKEKSNLVLLGKQAIDDDAHQTGGMLAAMLGWPQFT

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	2 – 255	Electron transfer flavoprotein subunit beta
Nucleotide binding	123 – 134	AMP
Turn	127 – 129

Literature citations

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen R.K.J.; Andresen B.S.; Christensen E.; Bross P.; Skovby F.; Gregersen N.;
Hum. Mutat. 22:12-23(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GA2B ASN-128; CHARACTERIZATION OF VARIANT GA2B ASN-128; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38117: Variant p.Asp128Asn