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UniProtKB/Swiss-Prot P43034: Variant p.Arg241Pro

Platelet-activating factor acetylhydrolase IB subunit alpha
Gene: PAFAH1B1
Variant information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Proline (P) at position 241 (R241P, p.Arg241Pro).
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 hydrophobic (P)
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

Involvement in disease:  Subcortical band heterotopia (SBH) [MIM:607432]: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. {ECO:0000269|PubMed:10441340, ECO:0000269|PubMed:14581661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells.
Any additional useful information about the variant.

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



Sequence information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  410
The length of the canonical sequence.

Location on the sequence:   VQTGYCVKTFTGHREWVRMV  R PNQDGTLIASCSNDQTVRVW
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                         VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Chimpanzee                    VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Mouse                         VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Rat                           VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Pig                           VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Bovine                        VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Cat                           VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Chicken                       VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Xenopus laevis                VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Xenopus tropicalis            VQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVW

Caenorhabditis elegans        ISTGYCVYTFRGHNDWVRMIRISNDGTLFASASLDQTVTVW

Drosophila                    VATGYCVKTYTGHREWVRMVRVHIEGSIFATCSNDQTIRVW

Slime mold                    AATGYCIKTLVGHEDWVRKITVSEDGSCIASCSNDQTIKTW

Baker's yeast                 FHNGWSLKTFQPHSQWVRSIDVL--GDYIISGSHDTTLRLT

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.

TypePositionsDescription
Chain 1 – 410 Platelet-activating factor acetylhydrolase IB subunit alpha
Repeat 232 – 271 WD 4
Region 83 – 410 Interaction with dynein and dynactin
Alternative sequence 237 – 237 V -> I. In isoform 2.
Alternative sequence 238 – 410 Missing. In isoform 2.


Literature citations

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Sicca F.; Kelemen A.; Genton P.; Das S.; Mei D.; Moro F.; Dobyns W.B.; Guerrini R.;
Neurology 61:1042-1046(2003)
Cited for: VARIANT SBH PRO-241;

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.