mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999469881777438 (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)

chr15:66411441C>TN/A show variant in all transcripts IGV

HGNC symbol

MEGF11

Ensembl transcript ID

ENST00000422354

Genbank transcript ID

NM_032445

UniProt peptide

A6BM72

alteration type

single base exchange

alteration region

CDS

DNA changes

c.284G>A
cDNA.425G>A
g.134645G>A

AA changes

S95N Score: 46 explain score(s)

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

frameshift

known variant

Reference ID: rs16949528

database	homozygous (T/T)	heterozygous	allele carriers
1000G	515	1111	1626
ExAC	1678	4828	6506

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.365	0.71
	0.513	0.799
(flanking)	3.24	0.999

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
Acc increased	134642	wt: 0.51 / mu: 0.59	wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC	atga\|GAGC
Donor increased	134646	wt: 0.27 / mu: 0.55	wt: GAGAGCGGAGACTTC mu: GAGAACGGAGACTTC	GAGC\|ggag
Donor increased	134647	wt: 0.72 / mu: 0.89	wt: AGAGCGGAGACTTCT mu: AGAACGGAGACTTCT	AGCG\|gaga
Donor gained	134640	0.89	mu: TACTATGAGAACGGA	CTAT\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000007189

Mmulatta

not conserved

ENSMMUG00000008007

356

AGTYGPNCSSIC

Fcatus

no alignment

ENSFCAG00000003091

n/a

Mmusculus

all conserved

ENSMUSG00000036466

Ggallus

all identical

ENSGALG00000007639

100

Trubripes

no homologue

Drerio

all identical

ENSDARG00000062686

101

Dmelanogaster

no homologue

Celegans

all conserved

Y47H9C.4

112

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
24	101	DOMAIN	EMI.	lost
95	130	DOMAIN	EGF-like 1.	lost
99	99	DISULFID	Potential.	might get lost (downstream of altered splice site)
103	103	DISULFID	By similarity.	might get lost (downstream of altered splice site)
118	118	DISULFID	By similarity.	might get lost (downstream of altered splice site)
120	120	DISULFID	By similarity.	might get lost (downstream of altered splice site)
129	129	DISULFID	By similarity.	might get lost (downstream of altered splice site)
143	173	DOMAIN	EGF-like 2.	might get lost (downstream of altered splice site)
146	146	DISULFID	By similarity.	might get lost (downstream of altered splice site)
148	148	DISULFID	By similarity.	might get lost (downstream of altered splice site)
154	154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
161	161	DISULFID	By similarity.	might get lost (downstream of altered splice site)
163	163	DISULFID	By similarity.	might get lost (downstream of altered splice site)
172	172	DISULFID	By similarity.	might get lost (downstream of altered splice site)
181	216	DOMAIN	EGF-like 3.	might get lost (downstream of altered splice site)
185	185	DISULFID	By similarity.	might get lost (downstream of altered splice site)
191	191	DISULFID	By similarity.	might get lost (downstream of altered splice site)
197	197	DISULFID	By similarity.	might get lost (downstream of altered splice site)
204	204	DISULFID	By similarity.	might get lost (downstream of altered splice site)
206	206	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
224	259	DOMAIN	EGF-like 4.	might get lost (downstream of altered splice site)
228	228	DISULFID	By similarity.	might get lost (downstream of altered splice site)
234	234	DISULFID	By similarity.	might get lost (downstream of altered splice site)
240	240	DISULFID	By similarity.	might get lost (downstream of altered splice site)
247	247	DISULFID	By similarity.	might get lost (downstream of altered splice site)
249	249	DISULFID	By similarity.	might get lost (downstream of altered splice site)
258	258	DISULFID	By similarity.	might get lost (downstream of altered splice site)
267	302	DOMAIN	EGF-like 5.	might get lost (downstream of altered splice site)
270	270	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
271	271	DISULFID	By similarity.	might get lost (downstream of altered splice site)
277	277	DISULFID	By similarity.	might get lost (downstream of altered splice site)
283	283	DISULFID	By similarity.	might get lost (downstream of altered splice site)
290	290	DISULFID	By similarity.	might get lost (downstream of altered splice site)
292	292	DISULFID	By similarity.	might get lost (downstream of altered splice site)
301	301	DISULFID	By similarity.	might get lost (downstream of altered splice site)
310	345	DOMAIN	EGF-like 6.	might get lost (downstream of altered splice site)
314	314	DISULFID	By similarity.	might get lost (downstream of altered splice site)
320	320	DISULFID	By similarity.	might get lost (downstream of altered splice site)
326	326	DISULFID	By similarity.	might get lost (downstream of altered splice site)
333	333	DISULFID	By similarity.	might get lost (downstream of altered splice site)
335	335	DISULFID	By similarity.	might get lost (downstream of altered splice site)
344	344	DISULFID	By similarity.	might get lost (downstream of altered splice site)
399	434	DOMAIN	EGF-like 7.	might get lost (downstream of altered splice site)
403	403	DISULFID	By similarity.	might get lost (downstream of altered splice site)
409	409	DISULFID	By similarity.	might get lost (downstream of altered splice site)
415	415	DISULFID	By similarity.	might get lost (downstream of altered splice site)
422	422	DISULFID	By similarity.	might get lost (downstream of altered splice site)
424	424	DISULFID	By similarity.	might get lost (downstream of altered splice site)
433	433	DISULFID	By similarity.	might get lost (downstream of altered splice site)
442	477	DOMAIN	EGF-like 8.	might get lost (downstream of altered splice site)
446	446	DISULFID	By similarity.	might get lost (downstream of altered splice site)
452	452	DISULFID	By similarity.	might get lost (downstream of altered splice site)
458	458	DISULFID	By similarity.	might get lost (downstream of altered splice site)
465	465	DISULFID	By similarity.	might get lost (downstream of altered splice site)
467	467	DISULFID	By similarity.	might get lost (downstream of altered splice site)
476	476	DISULFID	By similarity.	might get lost (downstream of altered splice site)
490	520	DOMAIN	EGF-like 9.	might get lost (downstream of altered splice site)
493	493	DISULFID	By similarity.	might get lost (downstream of altered splice site)
495	495	DISULFID	By similarity.	might get lost (downstream of altered splice site)
501	501	DISULFID	By similarity.	might get lost (downstream of altered splice site)
508	508	DISULFID	By similarity.	might get lost (downstream of altered splice site)
510	510	DISULFID	By similarity.	might get lost (downstream of altered splice site)
519	519	DISULFID	By similarity.	might get lost (downstream of altered splice site)
531	531	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
571	606	DOMAIN	EGF-like 10.	might get lost (downstream of altered splice site)
575	575	DISULFID	By similarity.	might get lost (downstream of altered splice site)
581	581	DISULFID	By similarity.	might get lost (downstream of altered splice site)
587	587	DISULFID	By similarity.	might get lost (downstream of altered splice site)
594	594	DISULFID	By similarity.	might get lost (downstream of altered splice site)
596	596	DISULFID	By similarity.	might get lost (downstream of altered splice site)
605	605	DISULFID	By similarity.	might get lost (downstream of altered splice site)
659	694	DOMAIN	EGF-like 11.	might get lost (downstream of altered splice site)
663	663	DISULFID	By similarity.	might get lost (downstream of altered splice site)
669	669	DISULFID	By similarity.	might get lost (downstream of altered splice site)
675	675	DISULFID	By similarity.	might get lost (downstream of altered splice site)
682	682	DISULFID	By similarity.	might get lost (downstream of altered splice site)
684	684	DISULFID	By similarity.	might get lost (downstream of altered splice site)
693	693	DISULFID	By similarity.	might get lost (downstream of altered splice site)
707	737	DOMAIN	EGF-like 12.	might get lost (downstream of altered splice site)
710	710	DISULFID	By similarity.	might get lost (downstream of altered splice site)
712	712	DISULFID	By similarity.	might get lost (downstream of altered splice site)
718	718	DISULFID	By similarity.	might get lost (downstream of altered splice site)
725	725	DISULFID	By similarity.	might get lost (downstream of altered splice site)
727	727	DISULFID	By similarity.	might get lost (downstream of altered splice site)
736	736	DISULFID	By similarity.	might get lost (downstream of altered splice site)
750	780	DOMAIN	EGF-like 13.	might get lost (downstream of altered splice site)
753	753	DISULFID	By similarity.	might get lost (downstream of altered splice site)
755	755	DISULFID	By similarity.	might get lost (downstream of altered splice site)
761	761	DISULFID	By similarity.	might get lost (downstream of altered splice site)
768	768	DISULFID	By similarity.	might get lost (downstream of altered splice site)
770	770	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
788	823	DOMAIN	EGF-like 14.	might get lost (downstream of altered splice site)
792	792	DISULFID	By similarity.	might get lost (downstream of altered splice site)
798	798	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
811	811	DISULFID	By similarity.	might get lost (downstream of altered splice site)
813	813	DISULFID	By similarity.	might get lost (downstream of altered splice site)
822	822	DISULFID	By similarity.	might get lost (downstream of altered splice site)
849	869	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3135 / 3135

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

1045 / 1045

position of stopcodon in wt / mu cDNA

3276 / 3276

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

142 / 142

chromosome

strand

-1

last intron/exon boundary

3116

theoretical NMD boundary in CDS

2924

length of CDS

3135

coding sequence (CDS) position

284

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

425

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

134645

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

66411441

original gDNA sequence snippet

CTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATACGTA

altered gDNA sequence snippet

CTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATACGTA

original cDNA sequence snippet

CTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATACCCC

altered cDNA sequence snippet

CTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATACCCC

wildtype AA sequence

MVLSLTGLIA FSFLQATLAL NPEDPNVCSH WESYAVTVQE SYAHPFDQIY YTRCTDILNW
FKCTRHRISY KTAYRRGLRT MYRRRSQCCP GYYESGDFCI PLCTEECVHG RCVSPDTCHC
EPGWGGPDCS SGCDSDHWGP HCSNRCQCQN GALCNPITGA CVCAAGFRGW RCEELCAPGT
HGKGCQLPCQ CRHGASCDPR AGECLCAPGY TGVYCEELCP PGSHGAHCEL RCPCQNGGTC
HHITGECACP PGWTGAVCAQ PCPPGTFGQN CSQDCPCHHG GQCDHVTGQC HCTAGYMGDR
CQEECPFGSF GFQCSQHCDC HNGGQCSPTT GACECEPGYK GPRCQERLCP EGLHGPGCTL
PCPCDADNTI SCHPVTGACT CQPGWSGHHC NESCPVGYYG DGCQLPCTCQ NGADCHSITG
GCTCAPGFMG EVCAVSCAAG TYGPNCSSIC SCNNGGTCSP VDGSCTCKEG WQGLDCTLPC
PSGTWGLNCN ESCTCANGAA CSPIDGSCSC TPGWLGDTCE LPCPDGTFGL NCSEHCDCSH
ADGCDPVTGH CCCLAGWTGI RCDSTCPPGR WGPNCSVSCS CENGGSCSPE DGSCECAPGF
RGPLCQRICP PGFYGHGCAQ PCPLCVHSSR PCHHISGICE CLPGFSGALC NQVCAGGYFG
QDCAQLCSCA NNGTCSPIDG SCQCFPGWIG KDCSQACPPG FWGPACFHAC SCHNGASCSA
EDGACHCTPG WTGLFCTQRC PAAFFGKDCG RVCQCQNGAS CDHISGKCTC RTGFTGQHCE
QRCAPGTFGY GCQQLCECMN NSTCDHVTGT CYCSPGFKGI RCDQAALMME ELNPYTKISP
ALGAERHSVG AVTGIMLLLF LIVVLLGLFA WHRRRQKEKG RDLAPRVSYT PAMRMTSTDY
SLSGACGMDR RQNTYIMDKG FKDYMKESVC SSSTCSLNSS ENPYATIKDP PILTCKLPES
SYVEMKSPVH MGSPYTDVPS LSTSNKNIYE VEPTVSVVQE GCGHNSSYIQ NAYDLPRNSH
IPGHYDLLPV RQSPANGPSQ DKQS*

mutated AA sequence

MVLSLTGLIA FSFLQATLAL NPEDPNVCSH WESYAVTVQE SYAHPFDQIY YTRCTDILNW
FKCTRHRISY KTAYRRGLRT MYRRRSQCCP GYYENGDFCI PLCTEECVHG RCVSPDTCHC
EPGWGGPDCS SGCDSDHWGP HCSNRCQCQN GALCNPITGA CVCAAGFRGW RCEELCAPGT
HGKGCQLPCQ CRHGASCDPR AGECLCAPGY TGVYCEELCP PGSHGAHCEL RCPCQNGGTC
HHITGECACP PGWTGAVCAQ PCPPGTFGQN CSQDCPCHHG GQCDHVTGQC HCTAGYMGDR
CQEECPFGSF GFQCSQHCDC HNGGQCSPTT GACECEPGYK GPRCQERLCP EGLHGPGCTL
PCPCDADNTI SCHPVTGACT CQPGWSGHHC NESCPVGYYG DGCQLPCTCQ NGADCHSITG
GCTCAPGFMG EVCAVSCAAG TYGPNCSSIC SCNNGGTCSP VDGSCTCKEG WQGLDCTLPC
PSGTWGLNCN ESCTCANGAA CSPIDGSCSC TPGWLGDTCE LPCPDGTFGL NCSEHCDCSH
ADGCDPVTGH CCCLAGWTGI RCDSTCPPGR WGPNCSVSCS CENGGSCSPE DGSCECAPGF
RGPLCQRICP PGFYGHGCAQ PCPLCVHSSR PCHHISGICE CLPGFSGALC NQVCAGGYFG
QDCAQLCSCA NNGTCSPIDG SCQCFPGWIG KDCSQACPPG FWGPACFHAC SCHNGASCSA
EDGACHCTPG WTGLFCTQRC PAAFFGKDCG RVCQCQNGAS CDHISGKCTC RTGFTGQHCE
QRCAPGTFGY GCQQLCECMN NSTCDHVTGT CYCSPGFKGI RCDQAALMME ELNPYTKISP
ALGAERHSVG AVTGIMLLLF LIVVLLGLFA WHRRRQKEKG RDLAPRVSYT PAMRMTSTDY
SLSGACGMDR RQNTYIMDKG FKDYMKESVC SSSTCSLNSS ENPYATIKDP PILTCKLPES
SYVEMKSPVH MGSPYTDVPS LSTSNKNIYE VEPTVSVVQE GCGHNSSYIQ NAYDLPRNSH
IPGHYDLLPV RQSPANGPSQ DKQS*

speed

1.26 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