UniProtKB/Swiss-Prot Q8IZT6: Variant p.Tyr2494His

Abnormal spindle-like microcephaly-associated protein
Gene: ASPM
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Variant information Variant position:

2494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Tyrosine (Y) to Histidine (H) at position 2494 (Y2494H, p.Tyr2494His). 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 aromatic (Y) to medium size and polar (H) 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
Other resources:

Links to websites of interest for the variant.

Variant rs964201 [ dbSNP | Ensembl ]

Sequence information Variant position:

2494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3477 The length of the canonical sequence.
Location on the sequence:

KKKLQEMQRAAVLIQATFRM Y RTYITFQTWKHASILIQQHY 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                         KKKLQEMQRAAVLIQATFRMYRTYITFQTWKHASILIQQHY

Gorilla                       KKKLQEMQRAAILIQATFRMHRTYTTFQTWKHASILIQQHY

                              KKKLQEMHRAAVLIQATYRMHRTYVTFQTWKHASILIQQHY

Rhesus macaque                KKKLQEMQRAAVLIQATFRMHRTCVTFQTWKQASILIQQHY

Chimpanzee                    KKKLQEMQRAAVLIQATFRMHRTYITFQTWKHASILIQQHY

Mouse                         QKKLQEMHRAAALIQATFRMHRTYVAFHIWKCASIRIQQCY

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.

Type	Positions	Description
Chain	1 – 3477	Abnormal spindle-like microcephaly-associated protein
Alternative sequence	1356 – 2940	Missing. In isoform 2.

Literature citations
ASPM is a major determinant of cerebral cortical size.
Bond J.; Roberts E.; Mochida G.H.; Hampshire D.J.; Scott S.; Askham J.M.; Springell K.; Mahadevan M.; Crow Y.J.; Markham A.F.; Walsh C.A.; Woods C.G.;
Nat. Genet. 32:316-320(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; INVOLVEMENT IN MCPH5; VARIANT HIS-2494; Evolution of the human ASPM gene, a major determinant of brain size.
Zhang J.;
Genetics 165:2063-2070(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT HIS-2494; 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;

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.