Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000409699
Querying Taster for transcript #2: ENST00000288745
Querying Taster for transcript #3: ENST00000422354
Querying Taster for transcript #4: ENST00000395625
Querying Taster for transcript #5: ENST00000395614
Querying Taster for transcript #6: ENST00000360698
MT speed 0 s - this script 6.762603 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MEGF11polymorphism_automatic0.000530118222561993simple_aaeaffectedS95Nsingle base exchangers16949528show file
MEGF11polymorphism_automatic0.000530118222561993simple_aaeaffectedS95Nsingle base exchangers16949528show file
MEGF11polymorphism_automatic0.00219659161695396simple_aaeaffectedS95Nsingle base exchangers16949528show file
MEGF11polymorphism_automatic0.999999999320076without_aaeaffectedsingle base exchangers16949528show file
MEGF11polymorphism_automatic0.999999999320076without_aaeaffectedsingle base exchangers16949528show file
MEGF11polymorphism_automatic0.999999999960076without_aaeaffectedsingle base exchangers16949528show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

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 ENST00000409699
Genbank transcript ID N/A
UniProt peptide A6BM72
alteration type single base exchange
alteration region CDS
DNA changes c.284G>A
cDNA.457G>A
g.134645G>A
AA changes S95N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 95
frameshift no
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      95RRSQCCPGYYESGDFCIPLCTEEC
mutated  all conserved    95RRSQCCPGYYENGDFCIPLCTEE
Ptroglodytes  all conserved  ENSPTRG00000007189  95RRSQCCPGYYENGDFCIPLCTEE
Mmulatta  not conserved  ENSMMUG00000008007  356CAPGFM--GEVCAVSCAAGTYGPNCSSICS
Fcatus  no alignment  ENSFCAG00000003091  n/a
Mmusculus  all conserved  ENSMUSG00000036466  94RRSQCCPGYYENGDFCIPLCTEE
Ggallus  all identical  ENSGALG00000007639  100RRSQCCPGYYESGDYCIPLCTEE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062686  101RRSQCCPGYFESGDLCVPRCSEE
Dmelanogaster  no homologue    
Celegans  all conserved  Y47H9C.4  112YVKQCCDGYYQTKDHFCLPDCNPP
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24101DOMAINEMI.lost
95130DOMAINEGF-like 1.lost
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (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 3308 / 3308
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 174 / 174
chromosome 15
strand -1
last intron/exon boundary 3148
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)		 457
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 1.38 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

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		 95
frameshift no
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      95RRSQCCPGYYESGDFCIPLCTEEC
mutated  all conserved    95RRSQCCPGYYENGDFCIPLCTEE
Ptroglodytes  all conserved  ENSPTRG00000007189  95RRSQCCPGYYENGDFCIPLCTEE
Mmulatta  not conserved  ENSMMUG00000008007  356CAPGFM--GEVCAVSCAAGTYGPNCSSICS
Fcatus  no alignment  ENSFCAG00000003091  n/a
Mmusculus  all conserved  ENSMUSG00000036466  94RRSQCCPGYYENGDFCIPLCTEE
Ggallus  all identical  ENSGALG00000007639  100RRSQCCPGYYESGDYCIPLCTEE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062686  101RRSQCCPGYFESGDLCVPRCSEE
Dmelanogaster  no homologue    
Celegans  all conserved  Y47H9C.4  112YVKQCCDGYYQTKDHFCLPDCNPP
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24101DOMAINEMI.lost
95130DOMAINEGF-like 1.lost
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (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 15
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 0.85 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997803408383046 (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 ENST00000360698
Genbank transcript ID N/A
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		 95
frameshift no
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      95RRSQCCPGYYESGDFCIPLCTEEC
mutated  all conserved    95RRSQCCPGYYENGDFCIPLCTEE
Ptroglodytes  all conserved  ENSPTRG00000007189  95RRSQCCPGYYENGDFCIPLCTEE
Mmulatta  no alignment  ENSMMUG00000008007  n/a
Fcatus  no alignment  ENSFCAG00000003091  n/a
Mmusculus  all conserved  ENSMUSG00000036466  94RRSQCCPGYYENGDFCIPLCTEE
Ggallus  all identical  ENSGALG00000007639  100RRSQCCPGYYESGDYCIPLCTEE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062686  101RRSQCCPGYFESGDLCVPRCSEE
Dmelanogaster  no homologue    
Celegans  all conserved  Y47H9C.4  112YVKQCCDGYYQTKDHFCLPDCNPP
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24101DOMAINEMI.lost
95130DOMAINEGF-like 1.lost
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2628 / 2628
position (AA) of stopcodon in wt / mu AA sequence 876 / 876
position of stopcodon in wt / mu cDNA 2769 / 2769
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 15
strand -1
last intron/exon boundary 3346
theoretical NMD boundary in CDS 3154
length of CDS 2628
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 WTGLFCTQRK PHLLASQPLR IPCCGLLATV GIVQTSREGG MQAAPGLVVP
DSCPTRTEEL CRGSSRPDWI QGIDKPKVLE GQGCKAAQQH FLGRTVGAYA SVRMAPAVTT
SVASAPAAQA SPGNTVSRDV PQEPLAMGVS SYVSA*
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 WTGLFCTQRK PHLLASQPLR IPCCGLLATV GIVQTSREGG MQAAPGLVVP
DSCPTRTEEL CRGSSRPDWI QGIDKPKVLE GQGCKAAQQH FLGRTVGAYA SVRMAPAVTT
SVASAPAAQA SPGNTVSRDV PQEPLAMGVS SYVSA*
speed 1.38 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 6.7992400378651e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000288745
Genbank transcript ID N/A
UniProt peptide A6BM72
alteration type single base exchange
alteration region intron
DNA changes g.134645G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 4796
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24101DOMAINEMI.might get lost (downstream of altered splice site)
2828DISULFIDPotential.might get lost (downstream of altered splice site)
5454DISULFIDPotential.might get lost (downstream of altered splice site)
6363DISULFIDPotential.might get lost (downstream of altered splice site)
8888DISULFIDPotential.might get lost (downstream of altered splice site)
8989DISULFIDPotential.might get lost (downstream of altered splice site)
95130DOMAINEGF-like 1.might get lost (downstream of altered splice site)
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 160 / 160
chromosome 15
strand -1
last intron/exon boundary 2909
theoretical NMD boundary in CDS 2699
length of CDS 2910
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MHTPSIRSIT HDAQTSSTGS SAPGTALCTE ECVHGRCVSP DTCHCEPGWG GPDCSSGCDS
DHWGPHCSNR CQCQNGALCN PITGACVCAA GFRGWRCEEL CAPGTHGKGC QLPCQCRHGA
SCDPRAGECL CAPGYTGVYC EELCPPGSHG AHCELRCPCQ NGGTCHHITG ECACPPGWTG
AVCAQPCPPG TFGQNCSQDC PCHHGGQCDH VTGQCHCTAG YMGDRCQEEC PFGSFGFQCS
QHCDCHNGGQ CSPTTGACEC EPGYKGPRCQ ERLCPEGLHG PGCTLPCPCD ADNTISCHPV
TGACTCQPGW SGHHCNESCP VGYYGDGCQL PCTCQNGADC HSITGGCTCA PGFMGEVCAV
SCAAGTYGPN CSSICSCNNG GTCSPVDGSC TCKEGWQGLD CTLPCPSGTW GLNCNESCTC
ANGAACSPID GSCSCTPGWL GDTCELPCPD GTFGLNCSEH CDCSHADGCD PVTGHCCCLA
GWTGIRCDST CPPGRWGPNC SVSCSCENGG SCSPEDGSCE CAPGFRGPLC QRICPPGFYG
HGCAQPCPLC VHSSRPCHHI SGICECLPGF SGALCNQVCA GGYFGQDCAQ LCSCANNGTC
SPIDGSCQCF PGWIGKDCSQ ACPPGFWGPA CFHACSCHNG ASCSAEDGAC HCTPGWTGLF
CTQRCPAAFF GKDCGRVCQC QNGASCDHIS GKCTCRTGFT GQHCEQRCAP GTFGYGCQQL
CECMNNSTCD HVTGTCYCSP GFKGIRCDQA ALMMEELNPY TKISPALGAE RHSVGAVTGI
MLLLFLIVVL LGLFAWHRRR QKEKGRDLAP RVSYTPAMRM TSTDYSLSGA CGMDRRQNTY
IMDKGFKDYM KESVCSSSTC SLNSSENPYA TIKDPPILTC KLPESSYVEM KSPVHMGSPY
TDVPSLSTSN KNIYEVEPTV SVVQEGCGHN SSYIQNAYDL PRNSHIPGHY DLLPVRQSPA
NGPSQDKQS*
mutated AA sequence N/A
speed 0.69 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 6.7992400378651e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000395625
Genbank transcript ID N/A
UniProt peptide A6BM72
alteration type single base exchange
alteration region intron
DNA changes g.134645G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 4796
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24101DOMAINEMI.might get lost (downstream of altered splice site)
2828DISULFIDPotential.might get lost (downstream of altered splice site)
5454DISULFIDPotential.might get lost (downstream of altered splice site)
6363DISULFIDPotential.might get lost (downstream of altered splice site)
8888DISULFIDPotential.might get lost (downstream of altered splice site)
8989DISULFIDPotential.might get lost (downstream of altered splice site)
95130DOMAINEGF-like 1.might get lost (downstream of altered splice site)
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 266 / 266
chromosome 15
strand -1
last intron/exon boundary 3015
theoretical NMD boundary in CDS 2699
length of CDS 2910
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MHTPSIRSIT HDAQTSSTGS SAPGTALCTE ECVHGRCVSP DTCHCEPGWG GPDCSSGCDS
DHWGPHCSNR CQCQNGALCN PITGACVCAA GFRGWRCEEL CAPGTHGKGC QLPCQCRHGA
SCDPRAGECL CAPGYTGVYC EELCPPGSHG AHCELRCPCQ NGGTCHHITG ECACPPGWTG
AVCAQPCPPG TFGQNCSQDC PCHHGGQCDH VTGQCHCTAG YMGDRCQEEC PFGSFGFQCS
QHCDCHNGGQ CSPTTGACEC EPGYKGPRCQ ERLCPEGLHG PGCTLPCPCD ADNTISCHPV
TGACTCQPGW SGHHCNESCP VGYYGDGCQL PCTCQNGADC HSITGGCTCA PGFMGEVCAV
SCAAGTYGPN CSSICSCNNG GTCSPVDGSC TCKEGWQGLD CTLPCPSGTW GLNCNESCTC
ANGAACSPID GSCSCTPGWL GDTCELPCPD GTFGLNCSEH CDCSHADGCD PVTGHCCCLA
GWTGIRCDST CPPGRWGPNC SVSCSCENGG SCSPEDGSCE CAPGFRGPLC QRICPPGFYG
HGCAQPCPLC VHSSRPCHHI SGICECLPGF SGALCNQVCA GGYFGQDCAQ LCSCANNGTC
SPIDGSCQCF PGWIGKDCSQ ACPPGFWGPA CFHACSCHNG ASCSAEDGAC HCTPGWTGLF
CTQRCPAAFF GKDCGRVCQC QNGASCDHIS GKCTCRTGFT GQHCEQRCAP GTFGYGCQQL
CECMNNSTCD HVTGTCYCSP GFKGIRCDQA ALMMEELNPY TKISPALGAE RHSVGAVTGI
MLLLFLIVVL LGLFAWHRRR QKEKGRDLAP RVSYTPAMRM TSTDYSLSGA CGMDRRQNTY
IMDKGFKDYM KESVCSSSTC SLNSSENPYA TIKDPPILTC KLPESSYVEM KSPVHMGSPY
TDVPSLSTSN KNIYEVEPTV SVVQEGCGHN SSYIQNAYDL PRNSHIPGHY DLLPVRQSPA
NGPSQDKQS*
mutated AA sequence N/A
speed 1.09 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.99244381971581e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000395614
Genbank transcript ID N/A
UniProt peptide A6BM72
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.345G>A
g.134645G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16949528
databasehomozygous (T/T)heterozygousallele carriers
1000G51511111626
ExAC167848286506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3650.71
0.5130.799
(flanking)3.240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -733) | splice site change before start ATG (at aa -732) | splice site change before start ATG (at aa -731) | splice site change before start ATG (at aa -730) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased134642wt: 0.51 / mu: 0.59wt: GTGCTGCCCTGGCTACTATGAGAGCGGAGACTTCTGCATAC
mu: GTGCTGCCCTGGCTACTATGAGAACGGAGACTTCTGCATAC		 atga|GAGC
Donor increased134647wt: 0.72 / mu: 0.89wt: AGAGCGGAGACTTCT
mu: AGAACGGAGACTTCT		 AGCG|gaga
Donor increased134646wt: 0.27 / mu: 0.55wt: GAGAGCGGAGACTTC
mu: GAGAACGGAGACTTC		 GAGC|ggag
Donor gained1346400.89mu: TACTATGAGAACGGA CTAT|gaga
distance from splice site 18
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
119SIGNALPotential.might get lost (downstream of altered splice site)
24101DOMAINEMI.might get lost (downstream of altered splice site)
2828DISULFIDPotential.might get lost (downstream of altered splice site)
5454DISULFIDPotential.might get lost (downstream of altered splice site)
6363DISULFIDPotential.might get lost (downstream of altered splice site)
8888DISULFIDPotential.might get lost (downstream of altered splice site)
8989DISULFIDPotential.might get lost (downstream of altered splice site)
95130DOMAINEGF-like 1.might get lost (downstream of altered splice site)
9999DISULFIDPotential.might get lost (downstream of altered splice site)
103103DISULFIDBy similarity.might get lost (downstream of altered splice site)
118118DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120DISULFIDBy similarity.might get lost (downstream of altered splice site)
129129DISULFIDBy similarity.might get lost (downstream of altered splice site)
143173DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
161161DISULFIDBy similarity.might get lost (downstream of altered splice site)
163163DISULFIDBy similarity.might get lost (downstream of altered splice site)
172172DISULFIDBy similarity.might get lost (downstream of altered splice site)
181216DOMAINEGF-like 3.might get lost (downstream of altered splice site)
185185DISULFIDBy similarity.might get lost (downstream of altered splice site)
191191DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
215215DISULFIDBy similarity.might get lost (downstream of altered splice site)
224259DOMAINEGF-like 4.might get lost (downstream of altered splice site)
228228DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
247247DISULFIDBy similarity.might get lost (downstream of altered splice site)
249249DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258DISULFIDBy similarity.might get lost (downstream of altered splice site)
267302DOMAINEGF-like 5.might get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271DISULFIDBy similarity.might get lost (downstream of altered splice site)
277277DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
290290DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
310345DOMAINEGF-like 6.might get lost (downstream of altered splice site)
314314DISULFIDBy similarity.might get lost (downstream of altered splice site)
320320DISULFIDBy similarity.might get lost (downstream of altered splice site)
326326DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
335335DISULFIDBy similarity.might get lost (downstream of altered splice site)
344344DISULFIDBy similarity.might get lost (downstream of altered splice site)
399434DOMAINEGF-like 7.might get lost (downstream of altered splice site)
403403DISULFIDBy similarity.might get lost (downstream of altered splice site)
409409DISULFIDBy similarity.might get lost (downstream of altered splice site)
415415DISULFIDBy similarity.might get lost (downstream of altered splice site)
422422DISULFIDBy similarity.might get lost (downstream of altered splice site)
424424DISULFIDBy similarity.might get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
442477DOMAINEGF-like 8.might get lost (downstream of altered splice site)
446446DISULFIDBy similarity.might get lost (downstream of altered splice site)
452452DISULFIDBy similarity.might get lost (downstream of altered splice site)
458458DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
476476DISULFIDBy similarity.might get lost (downstream of altered splice site)
490520DOMAINEGF-like 9.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
501501DISULFIDBy similarity.might get lost (downstream of altered splice site)
508508DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
531531CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571606DOMAINEGF-like 10.might get lost (downstream of altered splice site)
575575DISULFIDBy similarity.might get lost (downstream of altered splice site)
581581DISULFIDBy similarity.might get lost (downstream of altered splice site)
587587DISULFIDBy similarity.might get lost (downstream of altered splice site)
594594DISULFIDBy similarity.might get lost (downstream of altered splice site)
596596DISULFIDBy similarity.might get lost (downstream of altered splice site)
605605DISULFIDBy similarity.might get lost (downstream of altered splice site)
659694DOMAINEGF-like 11.might get lost (downstream of altered splice site)
663663DISULFIDBy similarity.might get lost (downstream of altered splice site)
669669DISULFIDBy similarity.might get lost (downstream of altered splice site)
675675DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
693693DISULFIDBy similarity.might get lost (downstream of altered splice site)
707737DOMAINEGF-like 12.might get lost (downstream of altered splice site)
710710DISULFIDBy similarity.might get lost (downstream of altered splice site)
712712DISULFIDBy similarity.might get lost (downstream of altered splice site)
718718DISULFIDBy similarity.might get lost (downstream of altered splice site)
725725DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
750780DOMAINEGF-like 13.might get lost (downstream of altered splice site)
753753DISULFIDBy similarity.might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
761761DISULFIDBy similarity.might get lost (downstream of altered splice site)
768768DISULFIDBy similarity.might get lost (downstream of altered splice site)
770770DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
788823DOMAINEGF-like 14.might get lost (downstream of altered splice site)
792792DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
811811DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
822822DISULFIDBy similarity.might get lost (downstream of altered splice site)
849869TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 2543 / 2543
chromosome 15
strand -1
last intron/exon boundary 2910
theoretical NMD boundary in CDS 317
length of CDS 414
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 345
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 MMEELNPYTK ISPALGAERH SVGAVTGIML LLFLIVVLLG LFAWHRRRQK EKGRDLAPRV
SYTPAMRMTS TDYSLSASTT PWWPVMEHLA RPFSQRPRTQ LSNKSLDRDT AGWTPYSYVN
VLDQCPGGQV PARGLLH*
mutated AA sequence N/A
speed 0.82 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
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Problems