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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43034: Variant p.Ser169Pro

Platelet-activating factor acetylhydrolase IB subunit beta
Gene: PAFAH1B1
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Variant information Variant position: help 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help 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: help 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: help -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

Variant description: help In SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 410 The length of the canonical sequence.
Location on the sequence: help HTDSVQDISFDHSGKLLASC S ADMTIKLWDFQGFECIRTMH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-QGFEC----IRTMH

Chimpanzee                    HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Mouse                         HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Rat                           HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Pig                           HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Bovine                        HTDSVEDI-----SFDHSGK----LLASCSADMTIKLWDF-

Cat                           HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Chicken                       HTDSVQDI-----SFDHTGK----LLASCSADMTIKLWDF-

Xenopus laevis                HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Xenopus tropicalis            HTDSVQDI-----SFDHSGK----LLASCSADMTIKLWDF-

Caenorhabditis elegans        HTDAVNDI-----AIDAAGK----QLVSCSSDLSIKLWDFG

Drosophila                    HTDSVQDV-----AFDAQGK----LLASCSADLSIKLWDFQ

Slime mold                    HTNAVQDI-----DFDKTGN----LLASCSADLTIKLWDF-

Baker's yeast                 HTKAITSMDVLFTNYTNSSKKNYLVIVTASKDLQIHVFKW-

Sequence annotation in neighborhood: help 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 beta
Repeat 148 – 187 WD 2
Region 83 – 410 Interaction with dynein and dynactin
Alternative sequence 134 – 170 Missing. In isoform 2.
Beta strand 162 – 169



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)
Cited for: INTERACTION WITH NDE1; CHARACTERIZATION OF VARIANTS LIS1 ARG-149 AND SBH PRO-169; 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)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS LIS1 ARG-149; SBH PRO-169 AND LIS1 HIS-317; 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.