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UniProtKB/Swiss-Prot P43034: Variant p.Ser169Pro

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

Variant position:  169
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 Serine (S) to Proline (P) at position 169 (S169P, p.Ser169Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
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

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; abrogates interaction with NDE1 and reduces neuronal migration in vitro.
Any additional useful information about the variant.

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

Sequence information

Variant position:  169
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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                         HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ-GFEC----IRTMH

Chimpanzee                    HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Mouse                         HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Rat                           HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Pig                           HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Bovine                        HTDSVEDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Cat                           HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Chicken                       HTDSVQDIS-----FDHTGK----LLASCSADMTIKLWDFQ

Xenopus laevis                HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Xenopus tropicalis            HTDSVQDIS-----FDHSGK----LLASCSADMTIKLWDFQ

Caenorhabditis elegans        HTDAVNDIA-----IDAAGK----QLVSCSSDLSIKLWDFG

Drosophila                    HTDSVQDVA-----FDAQGK----LLASCSADLSIKLWDFQ

Slime mold                    HTNAVQDID-----FDKTGN----LLASCSADLTIKLWDFQ


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.

Chain 1 – 410 Platelet-activating factor acetylhydrolase IB subunit alpha
Repeat 148 – 187 WD 2
Region 83 – 410 Interaction with dynein and dynactin
Alternative sequence 134 – 170 Missing. In isoform 2.

Literature citations

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
Feng Y.; Olson E.C.; Stukenberg P.T.; Flanagan L.A.; Kirschner M.W.; Walsh C.A.;
Neuron 28:665-679(2000)

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.
Tanaka T.; Serneo F.F.; Higgins C.; Gambello M.J.; Wynshaw-Boris A.; Gleeson J.G.;
J. Cell Biol. 165:709-721(2004)

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Pilz D.T.; Kuc J.; Matsumoto N.; Bodurtha J.; Bernadi B.; Tassinari C.A.; Dobyns W.B.; Ledbetter D.H.;
Hum. Mol. Genet. 8:1757-1760(1999)
Cited for: VARIANT SBH PRO-169;

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.