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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43034: Variant p.His149Arg

Platelet-activating factor acetylhydrolase IB subunit beta
Gene: PAFAH1B1
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Variant information Variant position: help 149 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 Histidine (H) to Arginine (R) at position 149 (H149R, p.His149Arg). 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 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: help 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: help In LIS1; 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 149 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 DATIKVWDYETGDFERTLKG H TDSVQDISFDHSGKLLASCS 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                         DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK----LLASCS

Chimpanzee                    DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Mouse                         DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Rat                           DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Pig                           DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Bovine                        DATIKVWD-YETGDFERTLKGHTDSVEDI-----SFDHSGK

Cat                           DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Chicken                       DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHTGK

Xenopus laevis                DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Xenopus tropicalis            DATIKVWD-YETGDFERTLKGHTDSVQDI-----SFDHSGK

Caenorhabditis elegans        DATIKVWD-YETGQLERTLKGHTDAVNDI-----AIDAAGK

Drosophila                    DATIRIWD-FETGEYERSLKGHTDSVQDV-----AFDAQGK

Slime mold                    DATIKVWD-FESGEFERTLKGHTNAVQDI-----DFDKTGN

Baker's yeast                 HGKLYAFDLFNYTIPLASLQSHTKAITSMDVLFTNYTNSSK

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.



Literature citations
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Lo Nigro C.; Chong S.S.; Smith A.C.M.; Dobyns W.B.; Carrozzo R.; Ledbetter D.H.;
Hum. Mol. Genet. 6:157-164(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LIS1 ARG-149; 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;
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.