UniProtKB/Swiss-Prot Q9UMS0: Variant p.Gly190Arg

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Gene: NFU1
Feedback?

Variant information Variant position:

190 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Arginine (R) at position 190 (G190R, p.Gly190Arg). 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 large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 MMDS1; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

190 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

254 The length of the canonical sequence.
Location on the sequence:

VAMIKELLDTRIRPTVQEDG G DVIYKGFEDGIVQLKLQGSC 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                         VAMIKELLDTRIRPTVQEDGGDVIYKGFE--DGIVQLKLQGSC

Mouse                         VAMIKELLDTRIRPTVQEDGGDVIYRGFE--DGIVRLKLQG

Drosophila                    VMMIKELLDTRIRPTVQEDGGDIVFMGYE--GGVVKLKMQG

Baker's yeast                 SELIEELIDTRIRPAILEDGGDIDYRGWDPKTGTVYLRLQG

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	10 – 254	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Region	173 – 241	NifU
Binding site	210 – 210
Mutagenesis	189 – 189	G -> A. Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins.
Mutagenesis	189 – 189	G -> K. Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins.

Literature citations
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting U.; Mayr J.A.; Vanlander A.V.; Hardy S.A.; Santra S.; Makowski C.; Alston C.L.; Zimmermann F.A.; Abela L.; Plecko B.; Rohrbach M.; Spranger S.; Seneca S.; Rolinski B.; Hagendorff A.; Hempel M.; Sperl W.; Meitinger T.; Smet J.; Taylor R.W.; Van Coster R.; Freisinger P.; Prokisch H.; Haack T.B.;
Front. Genet. 6:123-123(2015)
Cited for: VARIANTS MMDS1 PRO-21; TRP-182; ARG-189; ARG-190 AND CYS-208; CHARACTERIZATION OF VARIANTS MMDS1 PRO-21; TRP-182 AND CYS-208;

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.