UniProtKB/Swiss-Prot Q8IZT6: Variant p.Gln3180Pro

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

3180 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 Glutamine (Q) to Proline (P) at position 3180 (Q3180P, p.Gln3180Pro). 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 medium size and polar (Q) 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
Other resources:

Links to websites of interest for the variant.

Variant rs193251130 [ dbSNP | Ensembl ]

Sequence information Variant position:

3180 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:

FIQKYHSIKKIEHEGQECLS Q RNRAASVIQKAVRHFLLRKK 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                         FIQKYHSIKKIEHEGQECLSQRNRAASVIQKAVRHFLLRKK

Gorilla                       FIQKYHSVKKIEHEGQECLSQRNRAASVIQKAVRHFLLRKK

                              FAQKYPSILTSQHEVPECMSQQNRAASVIQKAVRRFLLRKK

Rhesus macaque                FIQKY-SIKKIEHEGQECLSQQNRAASVIQKAVRHFVLRKK

Chimpanzee                    FIQKYHSIKKIEHEGQECLSQRNRAASVIQKAVRHFLLRKK

Mouse                         FIEQYHKILSTRREAHACWLQQDRAASVIQKAVRRFLLCRR

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

Literature citations
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; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANT 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.