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→‎Common Alteration Types

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==Common Alteration Types==

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The most common alterations appearing in the COSMIC database of somatic mutations are missense mutations in the C-terminal catalytic domain (e.g. c.5284A>G p.I1762V, c.5162T>G p.L1721W, c.5618T>C p.I1873T; all NM_001127208.2 ) or nonsense mutations which truncate the catalytic domain (e.g. c.1648C>T p.R550*, c.4393C>T p.R1465*, c.2746C>T p.Q916*; all NM_001127208.2) (source: COSMIC). The catalytic domain lies between residues 1290 and 1905 (NM_001127208.2) based on alignment similarity (source: Pfam).

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Paul.Defazio

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