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UniProtKB/Swiss-Prot Q8WZ42: Variant p.Glu33419Asp

Titin
Gene: TTN
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Variant information Variant position: help 33419
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Aspartate (D) at position 33419 (E33419D, p.Glu33419Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 33419
Protein sequence length: help 34350
Location on the sequence: help ASQRRDEEVPRSVFPELTRT E AYAVSSFKKTSEMEASSSVR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 34350 Titin
Alternative sequence 5605 – 34350 Missing. In isoform 6.



Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] TYR-60; MET-115; CYS-328; THR-360; ILE-498; MET-799; ILE-811; HIS-922; ASP-937; THR-1081; ARG-1137; GLU-1201; ALA-1202; LEU-1295; ASP-1345; THR-1347; HIS-1350; LEU-1353; VAL-1393; CYS-1416; PRO-1441; VAL-1544; GLN-1572; GLY-1658; GLN-1664; ASP-1692; LEU-1744; GLY-1772; ILE-1907; HIS-1998; LEU-2107; THR-2118; THR-2164; TYR-2240; SER-2392; PHE-2432; ILE-2610; MET-2771; PHE-2823; ASN-2831; ILE-2930; ARG-3154; GLU-3191; LEU-3238; GLY-3250; MET-3261; GLN-3367; LYS-3482; LYS-3570; VAL-3590; VAL-3762; PHE-3877; LEU-3965; PRO-4215; TRP-4238; PHE-4283; THR-4291; ASP-4303; GLU-4427; GLU-12310; ALA-12469; CYS-12642; LYS-12657; GLU-12679; PHE-12720; CYS-12798; GLY-13049; LYS-13083; LEU-13096; ARG-13099; ALA-13297; MET-13399; THR-13418; VAL-13428; THR-13430; LYS-13434; ASN-13469; ASN-13495; SER-13785; HIS-13870; ILE-14109; GLN-14131; THR-14208; VAL-14728; THR-14999; THR-15021; VAL-15520; ILE-15555; GLN-15620; ILE-15629; CYS-15635; GLN-15700; PRO-15705; MET-15837; HIS-16058; ILE-16067; THR-16090; HIS-16195; CYS-16409; PRO-16424; MET-16629; ARG-16877; ASP-17060; VAL-17637; HIS-17838; ASN-17866; GLU-17906; ALA-18094; SER-18109; THR-18164; LEU-18221; THR-18222; GLN-18726; ALA-18835; LYS-18881; SER-18939; GLN-19000; GLN-19060; LYS-19091; SER-19224; ILE-19367; LYS-19392; SER-19480; GLY-19495; HIS-19665; ILE-19762; ARG-19947; MET-19956; GLN-19992; CYS-20057; LEU-20075; LYS-20179; THR-20198; VAL-20198; HIS-20331; THR-20408; LYS-20564; ILE-20718; PRO-20726; ASN-20892; ARG-20894; GLU-21125; SER-21403; CYS-21730; GLN-21747; ARG-21851; ARG-21851; ARG-21925; HIS-21995; VAL-22045; HIS-22149; ILE-22160; THR-22261; ASN-22306; HIS-22357; PRO-22408; HIS-22537; LEU-22584; PRO-22646; ALA-22670; ASP-22770; THR-22801; TRP-22823; GLN-22968; LEU-23074; PHE-23079; ASN-23282; TYR-23303; CYS-23306; SER-23515; GLN-23551; ASN-23807; ASN-23872; ALA-23891; HIS-23933; MET-23939; LEU-23952; GLY-24098; SER-24119; ILE-24133; ALA-24159; ALA-24239; LYS-24265; THR-24584; THR-24781; HIS-24799; HIS-24954; MET-24980; HIS-25659; THR-25679; ALA-25720; LYS-25821; LYS-25859; LYS-25879; VAL-25923; ILE-26045; GLU-26059; VAL-26134; CYS-26477; TYR-26843; ARG-27346; CYS-27652; VAL-27728; LEU-27754; THR-27755; VAL-27929; LEU-28132; GLN-28168; HIS-28538; THR-28572; THR-28948; VAL-28986; GLU-28993; VAL-28998; MET-29070; VAL-29090; CYS-29419; PRO-29479; LEU-29880; GLU-29976; GLY-30042; CYS-30107; PHE-30125; PRO-30211; THR-30412; SER-30617; ILE-30674; ILE-30809; ILE-30818; LYS-30825; THR-30856; ASP-30887; SER-30887; HIS-30897; HIS-30907; HIS-30946; PHE-31081; CYS-31107; GLY-31124; SER-31156; THR-31246; HIS-31330; ARG-31690; GLN-31724; ILE-31725; SER-31732; ILE-31886; CYS-32097; ASN-32171; ILE-32248; HIS-32281; HIS-32323; TRP-32411; VAL-32558; VAL-32610; VAL-32637; ALA-32922; ARG-32943; HIS-32953; LEU-33213; CYS-33242; MET-33387; ASP-33419; MET-33536; GLN-33568; LYS-33616; LEU-33620; VAL-33886; THR-33899; PRO-33904; ILE-33955 AND ALA-34115;
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.