UniProtKB/Swiss-Prot Q07955: Variant p.His183Arg

Serine/arginine-rich splicing factor 1
Gene: SRSF1
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Variant information Variant position:

183 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 Histidine (H) to Arginine (R) at position 183 (H183R, p.His183Arg). 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 polar (H) to large size and basic (R) 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 NEDFBA; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

VRKEDMTYAVRKLDNTKFRS H EGETAYIRVKVDGPRSPSYG 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                         VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

Mouse                         VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

Pig                           VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

Bovine                        VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

Chicken                       VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

Xenopus tropicalis            VRKEDMTYAVRKLDNTKFRSHEGETAYIRVKVDGPRSPSYG

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 – 248	Serine/arginine-rich splicing factor 1
Domain	121 – 195	RRM 2
Modified residue	179 – 179	N6-acetyllysine
Modified residue	199 – 199	Phosphoserine
Modified residue	201 – 201	Phosphoserine
Modified residue	202 – 202	Phosphotyrosine
Mutagenesis	180 – 180	F -> D. Reduced nucleocytoplasmic shuttling; when associated with D-162.
Mutagenesis	182 – 248	Missing. In MR-B; strongly inhibits splicing.
Mutagenesis	182 – 199	Missing. In MR-E; loss of ability to activate splicing.
Beta strand	183 – 185

Literature citations
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E.; Garde A.; Gautier T.; Rooney K.; Duffourd Y.; LeBlanc P.; van Reempts E.; Tran Mau-Them F.; Wentzensen I.M.; Au K.S.; Richardson K.; Northrup H.; Gatinois V.; Genevieve D.; Louie R.J.; Lyons M.J.; Laulund L.W.; Brasch-Andersen C.; Maxel Juul T.; El It F.; Marle N.; Callier P.; Relator R.; Haghshenas S.; McConkey H.; Kerkhof J.; Cesario C.; Novelli A.; Brunetti-Pierri N.; Pinelli M.; Pennamen P.; Naudion S.; Legendre M.; Courdier C.; Trimouille A.; Fenzy M.D.; Pais L.; Yeung A.; Nugent K.; Roeder E.R.; Mitani T.; Posey J.E.; Calame D.; Yonath H.; Rosenfeld J.A.; Musante L.; Faletra F.; Montanari F.; Sartor G.; Vancini A.; Seri M.; Besmond C.; Poirier K.; Hubert L.; Hemelsoet D.; Munnich A.; Lupski J.R.; Philippe C.; Thauvin-Robinet C.; Faivre L.; Sadikovic B.; Govin J.; Dermaut B.; Vitobello A.;
Am. J. Hum. Genet. 110:790-808(2023)
Cited for: VARIANTS NEDFBA LEU-24; 28-ARG--THR-248 DEL; 33-GLU--THR-248 DEL; VAL-40; ASN-44; THR-70; 77-TYR--THR-248 DEL; ARG-84; MET-160 AND ARG-183; INVOLVEMENT IN NEDFBA;

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.