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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IZT6: Variant p.Leu2647Ile

Abnormal spindle-like microcephaly-associated protein
Gene: ASPM
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Variant information Variant position: help 2647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Leucine (L) to Isoleucine (I) at position 2647 (L2647I, p.Leu2647Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

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


Sequence information Variant position: help 2647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3477 The length of the canonical sequence.
Location on the sequence: help AAIIIQKHCKAFKIRKHYLH L RATVVSIQRRYRKLTAVRTQ 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                         AAIIIQKHCKAFKIRKHYLHLRATVVSIQRRYRKLTAVRTQ

Gorilla                       AAIIIQKHCKAFKIRKHYLHLRATVVSIQRRYRKLTAVRTQ

                              AATIIQKHFKASKVRKHYLHLRANVIFVQRRYRALTAVRTQ

Rhesus macaque                AAIIIQKHCKAFKIRKHYLHLRATVVSIQRRYRKLTAVRTQ

Chimpanzee                    AAIIIQKHCKAFKIRKHYLHLRATVVSIQRRYRKLTAVRTQ

Mouse                         AAMITQKHFRAFKARR-------------------------

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 – 3477 Abnormal spindle-like microcephaly-associated protein
Domain 2624 – 2653 IQ 28
Alternative sequence 1356 – 2940 Missing. In isoform 2.



Literature citations
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J.; Scott S.; Hampshire D.J.; Springell K.; Corry P.; Abramowicz M.J.; Mochida G.H.; Hennekam R.C.M.; Maher E.R.; Fryns J.-P.; Alswaid A.; Jafri H.; Rashid Y.; Mubaidin A.; Walsh C.A.; Roberts E.; Woods C.G.;
Am. J. Hum. Genet. 73:1170-1177(2003)
Cited for: INVOLVEMENT IN MCPH5; VARIANTS GLY-2562; ILE-2647 AND ARG-3132; Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
Gul A.; Hassan M.J.; Mahmood S.; Chen W.; Rahmani S.; Naseer M.I.; Dellefave L.; Muhammad N.; Rafiq M.A.; Ansar M.; Chishti M.S.; Ali G.; Siddique T.; Ahmad W.;
Neurogenetics 7:105-110(2006)
Cited for: VARIANTS HIS-2494; ASP-2526; ILE-2647 AND PRO-3180; A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.
Wang J.-K.; Li Y.; Su B.;
Hum. Mol. Genet. 17:1329-1335(2008)
Cited for: VARIANT ILE-2647;
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.