mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.990782451963255 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:22969232G>AN/A show variant in all transcripts IGV

HGNC symbol

CYFIP1

Ensembl transcript ID

ENST00000435939

Genbank transcript ID

NM_001033028

UniProt peptide

Q7L576

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1165G>A
cDNA.1467G>A
g.77228G>A

AA changes

G389S Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

389

frameshift

known variant

Reference ID: rs7170637

database	homozygous (A/A)	heterozygous	allele carriers
1000G	339	653	992
ExAC	3375	16111	19486

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.575	1
	2.558	1
(flanking)	6.043	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	77228	0.87	mu: TGGACAGCTTCGACG	GACA\|gctt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

389

mutated

not conserved

389

Ptroglodytes

not conserved

ENSPTRG00000006818

820

Mmulatta

not conserved

ENSMMUG00000003890

818

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030447

820

Ggallus

not conserved

ENSGALG00000016736

821

Trubripes

not conserved

ENSTRUG00000009773

828

Drerio

not conserved

ENSDARG00000044345

824

Dmelanogaster

not conserved

FBgn0038320

839

Celegans

not conserved

F56A11.1

822

Xtropicalis

not conserved

ENSXETG00000004138

824

protein features

start (aa)	end (aa)	feature	details
384	417	HELIX		lost
422	424	TURN		might get lost (downstream of altered splice site)
434	434	MUTAGEN	E->K: Reduced interaction with RAC1; when associated with A-626.	might get lost (downstream of altered splice site)
434	438	HELIX		might get lost (downstream of altered splice site)
440	442	HELIX		might get lost (downstream of altered splice site)
445	467	HELIX		might get lost (downstream of altered splice site)
469	489	HELIX		might get lost (downstream of altered splice site)
490	492	TURN		might get lost (downstream of altered splice site)
493	501	HELIX		might get lost (downstream of altered splice site)
505	518	HELIX		might get lost (downstream of altered splice site)
522	525	STRAND		might get lost (downstream of altered splice site)
531	534	HELIX		might get lost (downstream of altered splice site)
556	570	HELIX		might get lost (downstream of altered splice site)
580	583	TURN		might get lost (downstream of altered splice site)
583	583	CONFLICT	S -> N (in Ref. 1; AAW51478 and 3; BAC86825).	might get lost (downstream of altered splice site)
586	598	HELIX		might get lost (downstream of altered splice site)
599	601	HELIX		might get lost (downstream of altered splice site)
602	606	HELIX		might get lost (downstream of altered splice site)
608	615	HELIX		might get lost (downstream of altered splice site)
619	621	HELIX		might get lost (downstream of altered splice site)
625	630	HELIX		might get lost (downstream of altered splice site)
626	626	MUTAGEN	F->A: Reduced interaction with RAC1; when associated with K-434.	might get lost (downstream of altered splice site)
631	633	TURN		might get lost (downstream of altered splice site)
632	632	MUTAGEN	M->D: Reduced interaction with RAC1.	might get lost (downstream of altered splice site)
640	642	HELIX		might get lost (downstream of altered splice site)
644	655	HELIX		might get lost (downstream of altered splice site)
658	660	HELIX		might get lost (downstream of altered splice site)
661	663	TURN		might get lost (downstream of altered splice site)
664	668	HELIX		might get lost (downstream of altered splice site)
670	680	HELIX		might get lost (downstream of altered splice site)
685	721	HELIX		might get lost (downstream of altered splice site)
697	697	MUTAGEN	L->D: Constitutive induction of the formation of actin filaments; when associated with D-704.	might get lost (downstream of altered splice site)
704	704	MUTAGEN	Y->D: Constitutive induction of the formation of actin filaments; when associated with D-697.	might get lost (downstream of altered splice site)
725	733	HELIX		might get lost (downstream of altered splice site)
747	750	HELIX		might get lost (downstream of altered splice site)
755	757	STRAND		might get lost (downstream of altered splice site)
760	762	STRAND		might get lost (downstream of altered splice site)
764	788	HELIX		might get lost (downstream of altered splice site)
792	794	HELIX		might get lost (downstream of altered splice site)
795	813	HELIX		might get lost (downstream of altered splice site)
821	828	HELIX		might get lost (downstream of altered splice site)
832	836	STRAND		might get lost (downstream of altered splice site)
838	849	HELIX		might get lost (downstream of altered splice site)
841	841	MUTAGEN	L->A: Constitutive induction of the formation of actin filaments; when associated with 844-A-A-845.	might get lost (downstream of altered splice site)
844	845	MUTAGEN	FW->AA: Constitutive induction of the formation of actin filaments; when associated with A-841.	might get lost (downstream of altered splice site)
851	854	HELIX		might get lost (downstream of altered splice site)
855	858	STRAND		might get lost (downstream of altered splice site)
859	862	TURN		might get lost (downstream of altered splice site)
863	866	STRAND		might get lost (downstream of altered splice site)
869	871	HELIX		might get lost (downstream of altered splice site)
885	887	HELIX		might get lost (downstream of altered splice site)
892	901	HELIX		might get lost (downstream of altered splice site)
898	898	CONFLICT	Y -> H (in Ref. 1; AAW51478 and 3; BAC86825).	might get lost (downstream of altered splice site)
902	906	HELIX		might get lost (downstream of altered splice site)
911	942	HELIX		might get lost (downstream of altered splice site)
930	930	CONFLICT	M -> R (in Ref. 1; AAW51478 and 3; BAC86825).	might get lost (downstream of altered splice site)
944	955	HELIX		might get lost (downstream of altered splice site)
965	967	HELIX		might get lost (downstream of altered splice site)
969	979	HELIX		might get lost (downstream of altered splice site)
981	984	HELIX		might get lost (downstream of altered splice site)
987	992	TURN		might get lost (downstream of altered splice site)
993	1025	HELIX		might get lost (downstream of altered splice site)
1026	1029	HELIX		might get lost (downstream of altered splice site)
1043	1053	HELIX		might get lost (downstream of altered splice site)
1055	1057	HELIX		might get lost (downstream of altered splice site)
1059	1066	HELIX		might get lost (downstream of altered splice site)
1068	1068	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1069	1083	HELIX		might get lost (downstream of altered splice site)
1086	1088	HELIX		might get lost (downstream of altered splice site)
1090	1092	STRAND		might get lost (downstream of altered splice site)
1093	1101	HELIX		might get lost (downstream of altered splice site)
1107	1110	TURN		might get lost (downstream of altered splice site)
1121	1123	STRAND		might get lost (downstream of altered splice site)
1127	1139	HELIX		might get lost (downstream of altered splice site)
1149	1153	HELIX		might get lost (downstream of altered splice site)
1156	1167	HELIX		might get lost (downstream of altered splice site)
1171	1177	HELIX		might get lost (downstream of altered splice site)
1176	1176	CONFLICT	V -> A (in Ref. 1; AAW51479).	might get lost (downstream of altered splice site)
1179	1190	HELIX		might get lost (downstream of altered splice site)
1197	1197	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
1201	1225	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2469 / 2469

position (AA) of stopcodon in wt / mu AA sequence

823 / 823

position of stopcodon in wt / mu cDNA

2771 / 2771

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

303 / 303

chromosome

strand

last intron/exon boundary

2607

theoretical NMD boundary in CDS

2254

length of CDS

2469

coding sequence (CDS) position

1165

cDNA position
(for ins/del: last normal base / first normal base)

1467

gDNA position
(for ins/del: last normal base / first normal base)

77228

chromosomal position
(for ins/del: last normal base / first normal base)

22969232

original gDNA sequence snippet

GCCGGTACCTGACGCTGGACGGCTTCGACGCCATGTTCCGG

altered gDNA sequence snippet

GCCGGTACCTGACGCTGGACAGCTTCGACGCCATGTTCCGG

original cDNA sequence snippet

GCCGGTACCTGACGCTGGACGGCTTCGACGCCATGTTCCGG

altered cDNA sequence snippet

GCCGGTACCTGACGCTGGACAGCTTCGACGCCATGTTCCGG

wildtype AA sequence

MAESLGSAEL LRQLKSLGME RLLHAVNTFL RQSCTYLPLL TFGGKTSFVS LDVYGTEANC
SATSCSFPKA AATWPRRQAP GPLGELVRGP PDQGVAEQSF SHGLFEFGIT NVPCIFSPPQ
MFPWIIQLYM VRTMLESLIA DKSGSKKTLR SSLEGPTILD IEKFHRESFF YTHLINFSET
LQQCCDLSQL WFREFFLELT MGRRIQFPIE MSMPWILTDH ILETKEASMM EYVLYSLDLY
NDSAHYALTR FNKQFLYDEI EAEVNLCFDQ FVYKLADQIF AYYKVMAGSL LLDKRLRSEC
KNQGATIHLP PSNRYETLLK QRHVQLLGRS IDLNRLITQR VSAAMYKSLE LAIGRFESED
LTSIVELDGL LEINRMTHKL LSRYLTLDGF DAMFREANHN VSAPYGRITL HVFWELNYDF
LPNYCYNGST NRFVRTVLPF SQEFQRDKQP NAQPQYLHGS KALNLAYSSI YGSYRNFVGP
PHFQVICRLL GYQGIAVVME ELLKVVKSLL QGTILQYVKT LMEVMPKICR LPRHEYGSPG
ILEFFHHQLK DIVEYAELKT VCFQNLREVG NAILFCLLIE QSLSLEEVCD LLHAAPFQNI
LPRVHVKEGE RLDAKMKRLE SKYAPLHLVP LIERLGTPQQ IAIAREGDLL TKERLCCGLS
MFEVILTRIR SFLDDPIWRG PLPSNGVMHV DECVEFHRLW SAMQFVYCIP VGTHEFTVEQ
CFGDGLHWAG CMIIVLLGQQ RRFAVLDFCY HLLKVQKHDG KDEIIKNVPL KKMVERIRKF
QILNDEIITI LDKYLKSGDG EGTPVEHVRC FQPPIHQSLA SS*

mutated AA sequence

MAESLGSAEL LRQLKSLGME RLLHAVNTFL RQSCTYLPLL TFGGKTSFVS LDVYGTEANC
SATSCSFPKA AATWPRRQAP GPLGELVRGP PDQGVAEQSF SHGLFEFGIT NVPCIFSPPQ
MFPWIIQLYM VRTMLESLIA DKSGSKKTLR SSLEGPTILD IEKFHRESFF YTHLINFSET
LQQCCDLSQL WFREFFLELT MGRRIQFPIE MSMPWILTDH ILETKEASMM EYVLYSLDLY
NDSAHYALTR FNKQFLYDEI EAEVNLCFDQ FVYKLADQIF AYYKVMAGSL LLDKRLRSEC
KNQGATIHLP PSNRYETLLK QRHVQLLGRS IDLNRLITQR VSAAMYKSLE LAIGRFESED
LTSIVELDGL LEINRMTHKL LSRYLTLDSF DAMFREANHN VSAPYGRITL HVFWELNYDF
LPNYCYNGST NRFVRTVLPF SQEFQRDKQP NAQPQYLHGS KALNLAYSSI YGSYRNFVGP
PHFQVICRLL GYQGIAVVME ELLKVVKSLL QGTILQYVKT LMEVMPKICR LPRHEYGSPG
ILEFFHHQLK DIVEYAELKT VCFQNLREVG NAILFCLLIE QSLSLEEVCD LLHAAPFQNI
LPRVHVKEGE RLDAKMKRLE SKYAPLHLVP LIERLGTPQQ IAIAREGDLL TKERLCCGLS
MFEVILTRIR SFLDDPIWRG PLPSNGVMHV DECVEFHRLW SAMQFVYCIP VGTHEFTVEQ
CFGDGLHWAG CMIIVLLGQQ RRFAVLDFCY HLLKVQKHDG KDEIIKNVPL KKMVERIRKF
QILNDEIITI LDKYLKSGDG EGTPVEHVRC FQPPIHQSLA SS*

speed

0.89 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project