UniProtKB/Swiss-Prot Q9Y2G1: Variant p.Arg695His

Myelin regulatory factor
Gene: MYRF
Feedback?

Variant information Variant position:

695 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 Arginine (R) to Histidine (H) at position 695 (R695H, p.Arg695His). 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 large size and basic (R) to medium size and polar (H) 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 CUGS; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1382225004 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1151 The length of the canonical sequence.
Location on the sequence:

FMENVGAVKELCKLTDNLET R IDELERWSHKLAKLRRLDSL 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                         FMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSL

Mouse                         FMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSL

Xenopus laevis                FMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSM

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 – 1151	Myelin regulatory factor
Chain	587 – 1151	Myelin regulatory factor, C-terminal
Topological domain	1 – 768	Cytoplasmic
Domain	587 – 696	Peptidase S74
Coiled coil	680 – 711
Mutagenesis	688 – 688	L -> A. Does not affect autocatalytic cleavage.
Mutagenesis	699 – 699	L -> A. Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part.

Literature citations
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H.; Yu L.; Zhou X.; Wynn J.; Zhao H.; Guo Y.; Zhu N.; Kitaygorodsky A.; Hernan R.; Aspelund G.; Lim F.Y.; Crombleholme T.; Cusick R.; Azarow K.; Danko M.E.; Chung D.; Warner B.W.; Mychaliska G.B.; Potoka D.; Wagner A.J.; ElFiky M.; Wilson J.M.; Nickerson D.; Bamshad M.; High F.A.; Longoni M.; Donahoe P.K.; Chung W.K.; Shen Y.;
PLoS Genet. 14:E1007822-E1007822(2018)
Cited for: INVOLVEMENT IN CUGS; VARIANTS CUGS ARG-435; 596-GLN--ASP-1151 DEL; ALA-679 AND HIS-695;

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.