MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000710560.1

Genbank transcript ID

NM_001412597 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.8271_8274delAGAG
g.67618_67621delAGAG

AA changes

E2758Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2758	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D
mutated	partly conserved	1017								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGELTTQIP CSWRTKGHIH DKKTEPFRLL AWSWCLNDEQ
FLGFGSDEEV RVRSPTRSPS VKTSPRKPRG RPRSGSDRNS AILSDPSVFS PLNKSETKSG
DKIKKKDSKS IEKKRGRPPT FPGVKIKITH GKDISELPKG NKEDSLKKIK RTPSATFQQA
TKIKKLRAGK LSPLKSKFKT GKLQIGRKGV QIVRRRGRPP STERIKTPSG LLINSELEKP
QKVRKDKEGT PPLTKEDKTV VRQSPRRIKP VRIIPSSKRT DATIAKQLLQ RAKKGAQKKI
EKEAAQLQGR KVKTQVKNIR QFIMPVVSAI SSRIIKTPRR FIEDEDYDPP IKIARLESTP
NSRFSAPSCG SSEKSSAASQ HSSQMSSDSS RSSSPSVDTS TDSQASEEIQ VLPEERSDTP
EVHPPLPISQ SPENESNDRR SRRYSVSERS FGSRTTKKLS TLQSAPQQQT SSSPPPPLLT
PPPPLQPASS ISDHTPWLMP PTIPLASPFL PASTAPMQGK RKSILREPTF RWTSLKHSRS
EPQYFSSAKY AKEGLIRKPI FDNFRPPPLT PEDVGFASGF SASGTAASAR LFSPLHSGTR
FDMHKRSPLL RAPRFTPSEA HSRIFESVTL PSNRTSAGTS SSGVSNRKRK RKVFSPIRSE
PRSPSHSMRT RSGRLSSSEL SPLTPPSSVS SSLSISVSPL ATSALNPTFT FPSHSLTQSG
ESAEKNQRPR KQTSAPAEPF SSSSPTPLFP WFTPGSQTER GRNKDKAPEE LSKDRDADKS
VEKDKSRERD REREKENKRE SRKEKRKKGS EIQSSSALYP VGRVSKEKVV GEDVATSSSA
KKATGRKKSS SHDSGTDITS VTLGDTTAVK TKILIKKGRG NLEKTNLDLG PTAPSLEKEK
TLCLSTPSSS TVKHSTSSIG SMLAQADKLP MTDKRVASLL KKAKAQLCKI EKSKSLKQTD
QPKAQGQESD SSETSVRGPR IKHVCRRAAV ALGRKRAVFP DDMPTLSALP WEEREKILSS
MGNDDKSSIA GSEDAEPLAP PIKPIKPVTR NKAPQEPPVK KGRRSRRCGQ CPGCQVPEDC
GVCTNCLDKP KFGGRNIKKQ CCKMRKCQNL QWMPSKAYLQ KQAKAVKKKE KKSKTSEKKD
SKESSVVKNV VDSSQKPTPS AREDPAPKKS SSEPPPRKPV EEKSEEGNVS APGPESKQAT
TPASRKSSKQ VSQPALVIPP QPPTTGPPRK EVPKTTPSEP KKKQPPPPES GPEQSKQKKV
APRPSIPVKQ KPKEKEKPPP VNKQENAGTL NILSTLSNGN SSKQKIPADG VHRIRVDFKE
DCEAENVWEM GGLGILTSVP ITPRVVCFLC ASSGHVEFVY CQVCCEPFHK FCLEENERPL
EDQLENWCCR RCKFCHVCGR QHQATKQLLE CNKCRNSYHP ECLGPNYPTK PTKKKKVWIC
TKCVRCKSCG STTPGKGWDA QWSHDFSLCH DCAKLFAKGN FCPLCDKCYD DDDYESKMMQ
CGKCDRWVHS KCENLSDEMY EILSNLPESV AYTCVNCTER HPAEWRLALE KELQISLKQV
LTALLNSRTT SHLLRYRQAA KPPDLNPETE ESIPSRSSPE GPDPPVLTEV SKQDDQQPLD
LEGVKRKMDQ GNYTSVLEFS DDIVKIIQAA INSDGGQPEI KKANSMVKSF FIRQMERVFP
WFSVKKSRFW EPNKVSSNSG MLPNAVLPPS LDHNYAQWQE REENSHTEQP PLMKKIIPAP
KPKGPGEPDS PTPLHPPTPP ILSTDRSRED SPELNPPPGI EDNRQCALCL TYGDDSANDA
GRLLYIGQNE WTHVNCALWS AEVFEDDDGS LKNVHMAVIR GKQLRCEFCQ KPGATVGCCL
TSCTSNYHFM CSRAKNCVFL DDKKVYCQRH RDLIKGEVVP ENGFEVFRRV FVDFEGISLR
RKFLNGLEPE NIHMMIGSMT IDCLGILNDL SDCEDKLFPI GYQCSRVYWS TTDARKRCVY
TCKIVECRPP VVEPDINSTV EHDENRTIAH SPTSFTESSS KESQNTAEII SPPSPDRPPH
SQTSGSCYYH VISKVPRIRT PSYSPTQRSP GCRPLPSAGS PTPTTHEIVT VGDPLLSSGL
RSIGSRRHST SSLSPQRSKL RIMSPMRTGN TYSRNNVSSV STTGTATDLE SSAKVVDHVL
GPLNSSTSLG QNTSTSSNLQ RTVVTVGNKN SHLDGSSSSE MKQSSASDLV SKSSSLKGEK
TKVLSSKSSE GSAHNVAYPG IPKLAPQVHN TTSRELNVSK IGSFAEPSSV SFSSKEALSF
PHLHLRGQRN DRDQHTDSTQ SANSSPDEDT EVKTLKLSGM SNRSSIINEH MGSSSRDRRQ
KGKKSCKETF KEKHSSKSFL EPGQVTTGEE GNLKPEFMDE VLTPEYMGQR PCNNVSSDKI
GDKGLSMPGV PKAPPMQVEG SAKELQAPRK RTVKVTLTPL KMENESQSKN ALKESSPASP
LQIESTSPTE PISASENPGD GPVAQPSPNN TSCQDSQSNN YQNLPVQDRN LMLPDGPKPQ
EDGSFKRRYP RRSARARSNM FFGLTPLYGV RSYGEEDIPF YSSSTGKKRG KRSAEGQVDG
ADDLSTSDED DLYYYNFTRT VISSGGEERL ASHNLFREEE QCDLPKISQL DGVDDGTESD
TSVTATTRKS SQIPKRNGKE NGTENLKIDR PEDAGEKEHV TKSSVGHKNE PKMDNCHSVS
RVKTQGQDSL EAQLSSLESS RRVHTSTPSD KNLLDTYNTE LLKSDSDNNN SDDCGNILPS
DIMDFVLKNT PSMQALGESP ESSSSELLNL GEGLGLDSNR EKDMGLFEVF SQQLPTTEPV
DSSVSSSISA EEQFELPLEL PSDLSVLTTR SPTVPSQNPS RLAVISDSGE KRVTITEKSV
ASSESDPALL SPGVDPTPEG HMTPDHFIQG HMDADHISSP PCGSVEQGHG NNQDLTRNSS
TPGLQVPVSP TVPIQNQKYV PNSTDSPGPS QISNAAVQTT PPHLKPATEK LIVVNQNMQP
LYVLQTLPNG VTQKIQLTSS VSSTPSVMET NTSVLGPMGG GLTLTTGLNP SLPTSQSLFP
SASKGLLPMS HHQHLHSFPA ATQSSFPPNI SNPPSGLLIG VQPPPDPQLL VSESSQRTDL
STTVATPSSG LKKRPISRLQ TRKNKKLAPS STPSNIAPSD VVSNMTLINF TPSQLPNHPS
LLDLGSLNTS SHRTVPNIIK RSKSSIMYFE PAPLLPQSVG GTAATAAGTS TISQDTSHLT
SGSVSGLASS SSVLNVVSMQ TTTTPTSSAS VPGHVTLTNP RLLGTPDIGS ISNLLIKASQ
QSLGIQDQPV ALPPSSGMFP QLGTSQTPST AAITAASSIC VLPSTQTTGI TAASPSGEAD
EHYQLQHVNQ LLASKTGIHS SQRDLDSASG PQVSNFTQTV DAPNSMGLEQ NKALSSAVQA
SPTSPGGSPS SPSSGQRSAS PSVPGPTKPK PKTKRFQLPL DKGNGKKHKV SHLRTSSSEA
HIPDQETTSL TSGTGTPGAE AEQQDTASVE QSSQKECGQP AGQVAVLPEV QVTQNPANEQ
ESAEPKTVEE EESNFSSPLM LWLQQEQKRK ESITEKKPKK GLVFEISSDD GFQICAESIE
DAWKSLTDKV QEARSNARLK QLSFAGVNGL RMLGILHDAV VFLIEQLSGA KHCRNYKFRF
HKPEEANEPP LNPHGSARAE VHLRKSAFDM FNFLASKHRQ PPEYNPNDEE EEEVQLKSAR
RATSMDLPMP MRFRHLKKTS KEAVGVYRSP IHGRGLFCKR NIDAGEMVIE YAGNVIRSIQ
TDKREKYYDS KGIGCYMFRI DDSEVVDATM HGNAARFINH SCEPNCYSRV INIDGQKHIV
IFAMRKIYRG EELTYDYKFP IEDASNKLPC NCGAKKCRKF LN*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGELTTQIP CSWRTKGHIH DKKTEPFRLL AWSWCLNDEQ
FLGFGSDEEV RVRSPTRSPS VKTSPRKPRG RPRSGSDRNS AILSDPSVFS PLNKSETKSG
DKIKKKDSKS IEKKRGRPPT FPGVKIKITH GKDISELPKG NKEDSLKKIK RTPSATFQQA
TKIKKLRAGK LSPLKSKFKT GKLQIGRKGV QIVRRRGRPP STERIKTPSG LLINSELEKP
QKVRKDKEGT PPLTKEDKTV VRQSPRRIKP VRIIPSSKRT DATIAKQLLQ RAKKGAQKKI
EKEAAQLQGR KVKTQVKNIR QFIMPVVSAI SSRIIKTPRR FIEDEDYDPP IKIARLESTP
NSRFSAPSCG SSEKSSAASQ HSSQMSSDSS RSSSPSVDTS TDSQASEEIQ VLPEERSDTP
EVHPPLPISQ SPENESNDRR SRRYSVSERS FGSRTTKKLS TLQSAPQQQT SSSPPPPLLT
PPPPLQPASS ISDHTPWLMP PTIPLASPFL PASTAPMQGK RKSILREPTF RWTSLKHSRS
EPQYFSSAKY AKEGLIRKPI FDNFRPPPLT PEDVGFASGF SASGTAASAR LFSPLHSGTR
FDMHKRSPLL RAPRFTPSEA HSRIFESVTL PSNRTSAGTS SSGVSNRKRK RKVFSPIRSE
PRSPSHSMRT RSGRLSSSEL SPLTPPSSVS SSLSISVSPL ATSALNPTFT FPSHSLTQSG
ESAEKNQRPR KQTSAPAEPF SSSSPTPLFP WFTPGSQTER GRNKDKAPEE LSKDRDADKS
VEKDKSRERD REREKENKRE SRKEKRKKGS EIQSSSALYP VGRVSKEKVV GEDVATSSSA
KKATGRKKSS SHDSGTDITS VTLGDTTAVK TKILIKKGRG NLEKTNLDLG PTAPSLEKEK
TLCLSTPSSS TVKHSTSSIG SMLAQADKLP MTDKRVASLL KKAKAQLCKI EKSKSLKQTD
QPKAQGQESD SSETSVRGPR IKHVCRRAAV ALGRKRAVFP DDMPTLSALP WEEREKILSS
MGNDDKSSIA GSEDAEPLAP PIKPIKPVTR NKAPQEPPVK KGRRSRRCGQ CPGCQVPEDC
GVCTNCLDKP KFGGRNIKKQ CCKMRKCQNL QWMPSKAYLQ KQAKAVKKKE KKSKTSEKKD
SKESSVVKNV VDSSQKPTPS AREDPAPKKS SSEPPPRKPV EEKSEEGNVS APGPESKQAT
TPASRKSSKQ VSQPALVIPP QPPTTGPPRK EVPKTTPSEP KKKQPPPPES GPEQSKQKKV
APRPSIPVKQ KPKEKEKPPP VNKQENAGTL NILSTLSNGN SSKQKIPADG VHRIRVDFKE
DCEAENVWEM GGLGILTSVP ITPRVVCFLC ASSGHVEFVY CQVCCEPFHK FCLEENERPL
EDQLENWCCR RCKFCHVCGR QHQATKQLLE CNKCRNSYHP ECLGPNYPTK PTKKKKVWIC
TKCVRCKSCG STTPGKGWDA QWSHDFSLCH DCAKLFAKGN FCPLCDKCYD DDDYESKMMQ
CGKCDRWVHS KCENLSDEMY EILSNLPESV AYTCVNCTER HPAEWRLALE KELQISLKQV
LTALLNSRTT SHLLRYRQAA KPPDLNPETE ESIPSRSSPE GPDPPVLTEV SKQDDQQPLD
LEGVKRKMDQ GNYTSVLEFS DDIVKIIQAA INSDGGQPEI KKANSMVKSF FIRQMERVFP
WFSVKKSRFW EPNKVSSNSG MLPNAVLPPS LDHNYAQWQE REENSHTEQP PLMKKIIPAP
KPKGPGEPDS PTPLHPPTPP ILSTDRSRED SPELNPPPGI EDNRQCALCL TYGDDSANDA
GRLLYIGQNE WTHVNCALWS AEVFEDDDGS LKNVHMAVIR GKQLRCEFCQ KPGATVGCCL
TSCTSNYHFM CSRAKNCVFL DDKKVYCQRH RDLIKGEVVP ENGFEVFRRV FVDFEGISLR
RKFLNGLEPE NIHMMIGSMT IDCLGILNDL SDCEDKLFPI GYQCSRVYWS TTDARKRCVY
TCKIVECRPP VVEPDINSTV EHDENRTIAH SPTSFTESSS KESQNTAEII SPPSPDRPPH
SQTSGSCYYH VISKVPRIRT PSYSPTQRSP GCRPLPSAGS PTPTTHEIVT VGDPLLSSGL
RSIGSRRHST SSLSPQRSKL RIMSPMRTGN TYSRNNVSSV STTGTATDLE SSAKVVDHVL
GPLNSSTSLG QNTSTSSNLQ RTVVTVGNKN SHLDGSSSSE MKQSSASDLV SKSSSLKGEK
TKVLSSKSSE GSAHNVAYPG IPKLAPQVHN TTSRELNVSK IGSFAEPSSV SFSSKEALSF
PHLHLRGQRN DRDQHTDSTQ SANSSPDEDT EVKTLKLSGM SNRSSIINEH MGSSSRDRRQ
KGKKSCKETF KEKHSSKSFL EPGQVTTGEE GNLKPEFMDE VLTPEYMGQR PCNNVSSDKI
GDKGLSMPGV PKAPPMQVEG SAKELQAPRK RTVKVTLTPL KMENESQSKN ALKESSPASP
LQIESTSPTE PISASENPGD GPVAQPSPNN TSCQDSQSNN YQNLPVQDRN LMLPDGPKPQ
EDGSFKRRYP RRSARARSNM FFGLTPLYGV RSYGEEDIPF YSSSTGKKRG KRSAEGQVDG
ADDLSTSDED DLYYYNFTRT VISSGGEERL ASHNLFREEE QCDLPKISQL DGVDDGTVIL
VSQPQQGKAA RFQKEMVKKM EQRT*

Position of stopcodon in wt / mu CDS

12009 / 8355

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

4003 / 2785

Position of stopcodon in wt / mu cDNA

12065 / 8411

Position of start ATG in wt / mu cDNA

57 / 57

Last intron/exon boundary

11789

Theoretical NMD boundary in CDS

11682

Length of CDS

12009

Coding sequence (CDS) position

8270 / 8275

cDNA position

8326 / 8331

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

11:118504072CAGAG>C_2_ENST00000389506

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.07, LOF (oe): 0.04, misssense (oe): 0.65, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000389506.10

Genbank transcript ID

NM_005933 (by similarity)

UniProt / AlphaMissense peptide

KMT2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.8172_8175delAGAG
g.67618_67621delAGAG

AA changes

E2725Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2725	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D
mutated	partly conserved	984								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	3969	CHAIN		lost
2713	2821	REGION		lost
2719	3969	CHAIN		lost
2721	2746	COMPBIAS	Polar residues	lost
2747	2784	COMPBIAS	Basic and acidic residues	lost
2785	2821	COMPBIAS	Polar residues	lost
2796	2796	MOD_RES	Phosphoserine	lost
2847	2855	MOTIF	9aaTAD	lost
2847	2855	HELIX		lost
2955	2955	MOD_RES	Phosphoserine	lost
2958	2958	MOD_RES	N6-acetyllysine	lost
2961	3064	REGION		lost
3011	3064	COMPBIAS	Polar residues	lost
3036	3036	MOD_RES	Phosphoserine	lost
3166	3183	COMPBIAS	Polar residues	lost
3166	3244	REGION		lost
3195	3222	COMPBIAS	Polar residues	lost
3230	3244	COMPBIAS	Polar residues	lost
3372	3372	MOD_RES	Phosphothreonine	lost
3462	3462	MOD_RES	N6-acetyllysine	lost
3464	3530	COMPBIAS	Polar residues	lost
3464	3608	REGION		lost
3511	3511	MOD_RES	Phosphoserine	lost
3515	3515	MOD_RES	Phosphoserine	lost
3527	3527	MOD_RES	Phosphoserine	lost
3563	3606	COMPBIAS	Polar residues	lost
3620	3643	REGION		lost
3666	3747	DOMAIN	FYR C-terminal	lost
3762	3767	MOTIF	WDR5 interaction motif (WIN)	lost
3764	3766	HELIX		lost
3765	3765	SITE	Important for WDR5-recognition and binding	lost
3785	3808	REGION		lost
3796	3799	HELIX		lost
3809	3811	HELIX		lost
3816	3820	HELIX		lost
3823	3830	HELIX		lost
3829	3945	DOMAIN	SET	lost
3831	3835	STRAND		lost
3837	3847	STRAND		lost
3839	3839	BINDING	S-adenosyl-L-methionine	lost
3841	3841	BINDING	S-adenosyl-L-methionine	lost
3854	3857	STRAND		lost
3860	3864	STRAND		lost
3865	3867	HELIX		lost
3868	3877	HELIX		lost
3882	3882	MOD_RES	S-methylcysteine	lost
3883	3883	BINDING	S-adenosyl-L-methionine	lost
3884	3886	STRAND		lost
3888	3894	STRAND		lost
3896	3898	TURN		lost
3901	3904	HELIX		lost
3906	3907	BINDING	S-adenosyl-L-methionine	lost
3909	3909	BINDING	Zn(2+)	lost
3912	3920	STRAND		lost
3923	3932	STRAND		lost
3939	3942	STRAND		lost
3951	3953	HELIX		lost
3953	3969	DOMAIN	Post-SET	lost
3957	3957	BINDING	Zn(2+)	lost
3958	3958	BINDING	S-adenosyl-L-methionine	lost
3959	3959	BINDING	Zn(2+)	lost
3964	3964	BINDING	Zn(2+)	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSDEMYEIL SNLPESVAYT
CVNCTERHPA EWRLALEKEL QISLKQVLTA LLNSRTTSHL LRYRQAAKPP DLNPETEESI
PSRSSPEGPD PPVLTEVSKQ DDQQPLDLEG VKRKMDQGNY TSVLEFSDDI VKIIQAAINS
DGGQPEIKKA NSMVKSFFIR QMERVFPWFS VKKSRFWEPN KVSSNSGMLP NAVLPPSLDH
NYAQWQEREE NSHTEQPPLM KKIIPAPKPK GPGEPDSPTP LHPPTPPILS TDRSREDSPE
LNPPPGIEDN RQCALCLTYG DDSANDAGRL LYIGQNEWTH VNCALWSAEV FEDDDGSLKN
VHMAVIRGKQ LRCEFCQKPG ATVGCCLTSC TSNYHFMCSR AKNCVFLDDK KVYCQRHRDL
IKGEVVPENG FEVFRRVFVD FEGISLRRKF LNGLEPENIH MMIGSMTIDC LGILNDLSDC
EDKLFPIGYQ CSRVYWSTTD ARKRCVYTCK IVECRPPVVE PDINSTVEHD ENRTIAHSPT
SFTESSSKES QNTAEIISPP SPDRPPHSQT SGSCYYHVIS KVPRIRTPSY SPTQRSPGCR
PLPSAGSPTP TTHEIVTVGD PLLSSGLRSI GSRRHSTSSL SPQRSKLRIM SPMRTGNTYS
RNNVSSVSTT GTATDLESSA KVVDHVLGPL NSSTSLGQNT STSSNLQRTV VTVGNKNSHL
DGSSSSEMKQ SSASDLVSKS SSLKGEKTKV LSSKSSEGSA HNVAYPGIPK LAPQVHNTTS
RELNVSKIGS FAEPSSVSFS SKEALSFPHL HLRGQRNDRD QHTDSTQSAN SSPDEDTEVK
TLKLSGMSNR SSIINEHMGS SSRDRRQKGK KSCKETFKEK HSSKSFLEPG QVTTGEEGNL
KPEFMDEVLT PEYMGQRPCN NVSSDKIGDK GLSMPGVPKA PPMQVEGSAK ELQAPRKRTV
KVTLTPLKME NESQSKNALK ESSPASPLQI ESTSPTEPIS ASENPGDGPV AQPSPNNTSC
QDSQSNNYQN LPVQDRNLML PDGPKPQEDG SFKRRYPRRS ARARSNMFFG LTPLYGVRSY
GEEDIPFYSS STGKKRGKRS AEGQVDGADD LSTSDEDDLY YYNFTRTVIS SGGEERLASH
NLFREEEQCD LPKISQLDGV DDGTESDTSV TATTRKSSQI PKRNGKENGT ENLKIDRPED
AGEKEHVTKS SVGHKNEPKM DNCHSVSRVK TQGQDSLEAQ LSSLESSRRV HTSTPSDKNL
LDTYNTELLK SDSDNNNSDD CGNILPSDIM DFVLKNTPSM QALGESPESS SSELLNLGEG
LGLDSNREKD MGLFEVFSQQ LPTTEPVDSS VSSSISAEEQ FELPLELPSD LSVLTTRSPT
VPSQNPSRLA VISDSGEKRV TITEKSVASS ESDPALLSPG VDPTPEGHMT PDHFIQGHMD
ADHISSPPCG SVEQGHGNNQ DLTRNSSTPG LQVPVSPTVP IQNQKYVPNS TDSPGPSQIS
NAAVQTTPPH LKPATEKLIV VNQNMQPLYV LQTLPNGVTQ KIQLTSSVSS TPSVMETNTS
VLGPMGGGLT LTTGLNPSLP TSQSLFPSAS KGLLPMSHHQ HLHSFPAATQ SSFPPNISNP
PSGLLIGVQP PPDPQLLVSE SSQRTDLSTT VATPSSGLKK RPISRLQTRK NKKLAPSSTP
SNIAPSDVVS NMTLINFTPS QLPNHPSLLD LGSLNTSSHR TVPNIIKRSK SSIMYFEPAP
LLPQSVGGTA ATAAGTSTIS QDTSHLTSGS VSGLASSSSV LNVVSMQTTT TPTSSASVPG
HVTLTNPRLL GTPDIGSISN LLIKASQQSL GIQDQPVALP PSSGMFPQLG TSQTPSTAAI
TAASSICVLP STQTTGITAA SPSGEADEHY QLQHVNQLLA SKTGIHSSQR DLDSASGPQV
SNFTQTVDAP NSMGLEQNKA LSSAVQASPT SPGGSPSSPS SGQRSASPSV PGPTKPKPKT
KRFQLPLDKG NGKKHKVSHL RTSSSEAHIP DQETTSLTSG TGTPGAEAEQ QDTASVEQSS
QKECGQPAGQ VAVLPEVQVT QNPANEQESA EPKTVEEEES NFSSPLMLWL QQEQKRKESI
TEKKPKKGLV FEISSDDGFQ ICAESIEDAW KSLTDKVQEA RSNARLKQLS FAGVNGLRML
GILHDAVVFL IEQLSGAKHC RNYKFRFHKP EEANEPPLNP HGSARAEVHL RKSAFDMFNF
LASKHRQPPE YNPNDEEEEE VQLKSARRAT SMDLPMPMRF RHLKKTSKEA VGVYRSPIHG
RGLFCKRNID AGEMVIEYAG NVIRSIQTDK REKYYDSKGI GCYMFRIDDS EVVDATMHGN
AARFINHSCE PNCYSRVINI DGQKHIVIFA MRKIYRGEEL TYDYKFPIED ASNKLPCNCG
AKKCRKFLN*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSDEMYEIL SNLPESVAYT
CVNCTERHPA EWRLALEKEL QISLKQVLTA LLNSRTTSHL LRYRQAAKPP DLNPETEESI
PSRSSPEGPD PPVLTEVSKQ DDQQPLDLEG VKRKMDQGNY TSVLEFSDDI VKIIQAAINS
DGGQPEIKKA NSMVKSFFIR QMERVFPWFS VKKSRFWEPN KVSSNSGMLP NAVLPPSLDH
NYAQWQEREE NSHTEQPPLM KKIIPAPKPK GPGEPDSPTP LHPPTPPILS TDRSREDSPE
LNPPPGIEDN RQCALCLTYG DDSANDAGRL LYIGQNEWTH VNCALWSAEV FEDDDGSLKN
VHMAVIRGKQ LRCEFCQKPG ATVGCCLTSC TSNYHFMCSR AKNCVFLDDK KVYCQRHRDL
IKGEVVPENG FEVFRRVFVD FEGISLRRKF LNGLEPENIH MMIGSMTIDC LGILNDLSDC
EDKLFPIGYQ CSRVYWSTTD ARKRCVYTCK IVECRPPVVE PDINSTVEHD ENRTIAHSPT
SFTESSSKES QNTAEIISPP SPDRPPHSQT SGSCYYHVIS KVPRIRTPSY SPTQRSPGCR
PLPSAGSPTP TTHEIVTVGD PLLSSGLRSI GSRRHSTSSL SPQRSKLRIM SPMRTGNTYS
RNNVSSVSTT GTATDLESSA KVVDHVLGPL NSSTSLGQNT STSSNLQRTV VTVGNKNSHL
DGSSSSEMKQ SSASDLVSKS SSLKGEKTKV LSSKSSEGSA HNVAYPGIPK LAPQVHNTTS
RELNVSKIGS FAEPSSVSFS SKEALSFPHL HLRGQRNDRD QHTDSTQSAN SSPDEDTEVK
TLKLSGMSNR SSIINEHMGS SSRDRRQKGK KSCKETFKEK HSSKSFLEPG QVTTGEEGNL
KPEFMDEVLT PEYMGQRPCN NVSSDKIGDK GLSMPGVPKA PPMQVEGSAK ELQAPRKRTV
KVTLTPLKME NESQSKNALK ESSPASPLQI ESTSPTEPIS ASENPGDGPV AQPSPNNTSC
QDSQSNNYQN LPVQDRNLML PDGPKPQEDG SFKRRYPRRS ARARSNMFFG LTPLYGVRSY
GEEDIPFYSS STGKKRGKRS AEGQVDGADD LSTSDEDDLY YYNFTRTVIS SGGEERLASH
NLFREEEQCD LPKISQLDGV DDGTVILVSQ PQQGKAARFQ KEMVKKMEQR T*

Position of stopcodon in wt / mu CDS

11910 / 8256

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

3970 / 2752

Position of stopcodon in wt / mu cDNA

11933 / 8279

Position of start ATG in wt / mu cDNA

24 / 24

Last intron/exon boundary

11657

Theoretical NMD boundary in CDS

11583

Length of CDS

11910

Coding sequence (CDS) position

8171 / 8176

cDNA position

8194 / 8199

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

11:118504072CAGAG>C_3_ENST00000649699

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.07, LOF (oe): 0.04, misssense (oe): 0.65, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000649699.1

Genbank transcript ID

UniProt / AlphaMissense peptide

KMT2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.8058_8061delAGAG
g.67618_67621delAGAG

AA changes

E2687Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2687	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D
mutated	partly conserved	984								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	2718	CHAIN		lost
1	3969	CHAIN		lost
2713	2821	REGION		lost
2718	2719	SITE	Cleavage; by TASP1, site 2	lost
2719	3969	CHAIN		lost
2721	2746	COMPBIAS	Polar residues	lost
2747	2784	COMPBIAS	Basic and acidic residues	lost
2785	2821	COMPBIAS	Polar residues	lost
2796	2796	MOD_RES	Phosphoserine	lost
2847	2855	HELIX		lost
2847	2855	MOTIF	9aaTAD	lost
2955	2955	MOD_RES	Phosphoserine	lost
2958	2958	MOD_RES	N6-acetyllysine	lost
2961	3064	REGION		lost
3011	3064	COMPBIAS	Polar residues	lost
3036	3036	MOD_RES	Phosphoserine	lost
3166	3183	COMPBIAS	Polar residues	lost
3166	3244	REGION		lost
3195	3222	COMPBIAS	Polar residues	lost
3230	3244	COMPBIAS	Polar residues	lost
3372	3372	MOD_RES	Phosphothreonine	lost
3462	3462	MOD_RES	N6-acetyllysine	lost
3464	3530	COMPBIAS	Polar residues	lost
3464	3608	REGION		lost
3511	3511	MOD_RES	Phosphoserine	lost
3515	3515	MOD_RES	Phosphoserine	lost
3527	3527	MOD_RES	Phosphoserine	lost
3563	3606	COMPBIAS	Polar residues	lost
3620	3643	REGION		lost
3666	3747	DOMAIN	FYR C-terminal	lost
3762	3767	MOTIF	WDR5 interaction motif (WIN)	lost
3764	3766	HELIX		lost
3765	3765	SITE	Important for WDR5-recognition and binding	lost
3785	3808	REGION		lost
3796	3799	HELIX		lost
3809	3811	HELIX		lost
3816	3820	HELIX		lost
3823	3830	HELIX		lost
3829	3945	DOMAIN	SET	lost
3831	3835	STRAND		lost
3837	3847	STRAND		lost
3839	3839	BINDING	S-adenosyl-L-methionine	lost
3841	3841	BINDING	S-adenosyl-L-methionine	lost
3854	3857	STRAND		lost
3860	3864	STRAND		lost
3865	3867	HELIX		lost
3868	3877	HELIX		lost
3882	3882	MOD_RES	S-methylcysteine	lost
3883	3883	BINDING	S-adenosyl-L-methionine	lost
3884	3886	STRAND		lost
3888	3894	STRAND		lost
3896	3898	TURN		lost
3901	3904	HELIX		lost
3906	3907	BINDING	S-adenosyl-L-methionine	lost
3909	3909	BINDING	Zn(2+)	lost
3912	3920	STRAND		lost
3923	3932	STRAND		lost
3939	3942	STRAND		lost
3951	3953	HELIX		lost
3953	3969	DOMAIN	Post-SET	lost
3957	3957	BINDING	Zn(2+)	lost
3958	3958	BINDING	S-adenosyl-L-methionine	lost
3959	3959	BINDING	Zn(2+)	lost
3964	3964	BINDING	Zn(2+)	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKFVYC QVCCEPFHKF CLEENERPLE DQLENWCCRR
CKFCHVCGRQ HQATKQLLEC NKCRNSYHPE CLGPNYPTKP TKKKKVWICT KCVRCKSCGS
TTPGKGWDAQ WSHDFSLCHD CAKLFAKGNF CPLCDKCYDD DDYESKMMQC GKCDRWVHSK
CENLSDEMYE ILSNLPESVA YTCVNCTERH PAEWRLALEK ELQISLKQVL TALLNSRTTS
HLLRYRQAAK PPDLNPETEE SIPSRSSPEG PDPPVLTEVS KQDDQQPLDL EGVKRKMDQG
NYTSVLEFSD DIVKIIQAAI NSDGGQPEIK KANSMVKSFF IRQMERVFPW FSVKKSRFWE
PNKVSSNSGM LPNAVLPPSL DHNYAQWQER EENSHTEQPP LMKKIIPAPK PKGPGEPDSP
TPLHPPTPPI LSTDRSREDS PELNPPPGIE DNRQCALCLT YGDDSANDAG RLLYIGQNEW
THVNCALWSA EVFEDDDGSL KNVHMAVIRG KQLRCEFCQK PGATVGCCLT SCTSNYHFMC
SRAKNCVFLD DKKVYCQRHR DLIKGEVVPE NGFEVFRRVF VDFEGISLRR KFLNGLEPEN
IHMMIGSMTI DCLGILNDLS DCEDKLFPIG YQCSRVYWST TDARKRCVYT CKIVECRPPV
VEPDINSTVE HDENRTIAHS PTSFTESSSK ESQNTAEIIS PPSPDRPPHS QTSGSCYYHV
ISKVPRIRTP SYSPTQRSPG CRPLPSAGSP TPTTHEIVTV GDPLLSSGLR SIGSRRHSTS
SLSPQRSKLR IMSPMRTGNT YSRNNVSSVS TTGTATDLES SAKVVDHVLG PLNSSTSLGQ
NTSTSSNLQR TVVTVGNKNS HLDGSSSSEM KQSSASDLVS KSSSLKGEKT KVLSSKSSEG
SAHNVAYPGI PKLAPQVHNT TSRELNVSKI GSFAEPSSVS FSSKEALSFP HLHLRGQRND
RDQHTDSTQS ANSSPDEDTE VKTLKLSGMS NRSSIINEHM GSSSRDRRQK GKKSCKETFK
EKHSSKSFLE PGQVTTGEEG NLKPEFMDEV LTPEYMGQRP CNNVSSDKIG DKGLSMPGVP
KAPPMQVEGS AKELQAPRKR TVKVTLTPLK MENESQSKNA LKESSPASPL QIESTSPTEP
ISASENPGDG PVAQPSPNNT SCQDSQSNNY QNLPVQDRNL MLPDGPKPQE DGSFKRRYPR
RSARARSNMF FGLTPLYGVR SYGEEDIPFY SSSTGKKRGK RSAEGQVDGA DDLSTSDEDD
LYYYNFTRTV ISSGGEERLA SHNLFREEEQ CDLPKISQLD GVDDGTESDT SVTATTRKSS
QIPKRNGKEN GTENLKIDRP EDAGEKEHVT KSSVGHKNEP KMDNCHSVSR VKTQGQDSLE
AQLSSLESSR RVHTSTPSDK NLLDTYNTEL LKSDSDNNNS DDCGNILPSD IMDFVLKNTP
SMQALGESPE SSSSELLNLG EGLGLDSNRE KDMGLFEVFS QQLPTTEPVD SSVSSSISAE
EQFELPLELP SDLSVLTTRS PTVPSQNPSR LAVISDSGEK RVTITEKSVA SSESDPALLS
PGVDPTPEGH MTPDHFIQGH MDADHISSPP CGSVEQGHGN NQDLTRNSST PGLQVPVSPT
VPIQNQKYVP NSTDSPGPSQ ISNAAVQTTP PHLKPATEKL IVVNQNMQPL YVLQTLPNGV
TQKIQLTSSV SSTPSVMETN TSVLGPMGGG LTLTTGLNPS LPTSQSLFPS ASKGLLPMSH
HQHLHSFPAA TQSSFPPNIS NPPSGLLIGV QPPPDPQLLV SESSQRTDLS TTVATPSSGL
KKRPISRLQT RKNKKLAPSS TPSNIAPSDV VSNMTLINFT PSQLPNHPSL LDLGSLNTSS
HRTVPNIIKR SKSSIMYFEP APLLPQSVGG TAATAAGTST ISQDTSHLTS GSVSGLASSS
SVLNVVSMQT TTTPTSSASV PGHVTLTNPR LLGTPDIGSI SNLLIKASQQ SLGIQDQPVA
LPPSSGMFPQ LGTSQTPSTA AITAASSICV LPSTQTTGIT AASPSGEADE HYQLQHVNQL
LASKTGIHSS QRDLDSASGP QVSNFTQTVD APNSMGLEQN KALSSAVQAS PTSPGGSPSS
PSSGQRSASP SVPGPTKPKP KTKRFQLPLD KGNGKKHKVS HLRTSSSEAH IPDQETTSLT
SGTGTPGAEA EQQDTASVEQ SSQKECGQPA GQVAVLPEVQ VTQNPANEQE SAEPKTVEEE
ESNFSSPLML WLQQEQKRKE SITEKKPKKG LVFEISSDDG FQICAESIED AWKSLTDKVQ
EARSNARLKQ LSFAGVNGLR MLGILHDAVV FLIEQLSGAK HCRNYKFRFH KPEEANEPPL
NPHGSARAEV HLRKSAFDMF NFLASKHRQP PEYNPNDEEE EEVQLKSARR ATSMDLPMPM
RFRHLKKTSK EAVGVYRSPI HGRGLFCKRN IDAGEMVIEY AGNVIRSIQT DKREKYYDSK
GIGCYMFRID DSEVVDATMH GNAARFINHS CEPNCYSRVI NIDGQKHIVI FAMRKIYRGE
ELTYDYKFPI EDASNKLPCN CGAKKCRKFL N*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKFVYC QVCCEPFHKF CLEENERPLE DQLENWCCRR
CKFCHVCGRQ HQATKQLLEC NKCRNSYHPE CLGPNYPTKP TKKKKVWICT KCVRCKSCGS
TTPGKGWDAQ WSHDFSLCHD CAKLFAKGNF CPLCDKCYDD DDYESKMMQC GKCDRWVHSK
CENLSDEMYE ILSNLPESVA YTCVNCTERH PAEWRLALEK ELQISLKQVL TALLNSRTTS
HLLRYRQAAK PPDLNPETEE SIPSRSSPEG PDPPVLTEVS KQDDQQPLDL EGVKRKMDQG
NYTSVLEFSD DIVKIIQAAI NSDGGQPEIK KANSMVKSFF IRQMERVFPW FSVKKSRFWE
PNKVSSNSGM LPNAVLPPSL DHNYAQWQER EENSHTEQPP LMKKIIPAPK PKGPGEPDSP
TPLHPPTPPI LSTDRSREDS PELNPPPGIE DNRQCALCLT YGDDSANDAG RLLYIGQNEW
THVNCALWSA EVFEDDDGSL KNVHMAVIRG KQLRCEFCQK PGATVGCCLT SCTSNYHFMC
SRAKNCVFLD DKKVYCQRHR DLIKGEVVPE NGFEVFRRVF VDFEGISLRR KFLNGLEPEN
IHMMIGSMTI DCLGILNDLS DCEDKLFPIG YQCSRVYWST TDARKRCVYT CKIVECRPPV
VEPDINSTVE HDENRTIAHS PTSFTESSSK ESQNTAEIIS PPSPDRPPHS QTSGSCYYHV
ISKVPRIRTP SYSPTQRSPG CRPLPSAGSP TPTTHEIVTV GDPLLSSGLR SIGSRRHSTS
SLSPQRSKLR IMSPMRTGNT YSRNNVSSVS TTGTATDLES SAKVVDHVLG PLNSSTSLGQ
NTSTSSNLQR TVVTVGNKNS HLDGSSSSEM KQSSASDLVS KSSSLKGEKT KVLSSKSSEG
SAHNVAYPGI PKLAPQVHNT TSRELNVSKI GSFAEPSSVS FSSKEALSFP HLHLRGQRND
RDQHTDSTQS ANSSPDEDTE VKTLKLSGMS NRSSIINEHM GSSSRDRRQK GKKSCKETFK
EKHSSKSFLE PGQVTTGEEG NLKPEFMDEV LTPEYMGQRP CNNVSSDKIG DKGLSMPGVP
KAPPMQVEGS AKELQAPRKR TVKVTLTPLK MENESQSKNA LKESSPASPL QIESTSPTEP
ISASENPGDG PVAQPSPNNT SCQDSQSNNY QNLPVQDRNL MLPDGPKPQE DGSFKRRYPR
RSARARSNMF FGLTPLYGVR SYGEEDIPFY SSSTGKKRGK RSAEGQVDGA DDLSTSDEDD
LYYYNFTRTV ISSGGEERLA SHNLFREEEQ CDLPKISQLD GVDDGTVILV SQPQQGKAAR
FQKEMVKKME QRT*

Position of stopcodon in wt / mu CDS

11796 / 8142

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

3932 / 2714

Position of stopcodon in wt / mu cDNA

11796 / 8142

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

11520

Theoretical NMD boundary in CDS

11469

Length of CDS

11796

Coding sequence (CDS) position

8057 / 8062

cDNA position

8057 / 8062

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

11:118504072CAGAG>C_4_ENST00000691053

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.07, LOF (oe): 0.04, misssense (oe): 0.65, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000691053.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.8253_8256delAGAG
g.67618_67621delAGAG

AA changes

E2752Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2752	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D
mutated	partly conserved	984								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSDEMYEIL SNLPESVAYT
CVNCTERHPA EWRLALEKEL QISLKQVLTA LLNSRTTSHL LRYRQAAKPP DLNPETEESI
PSRSSPEGPD PPVLTEVSKQ DDQQPLDLEG VKRKMDQGNY TSVLEFSDDI VKIIQAAINS
DGGQPEIKKA NSMVKSFFIR QMERVFPWFS VKKSRFWEPN KVSSNSGMLP NAVLPPSLDH
NYAQWQEREE NSHTEQPPLM KKIIPAPKPK GPGEPDSPTP LHPPTPPILS TDRSREDSPE
LNPPPGIEDN RQCALCLTYG DDSANDSRIV KSPSSAACLN TFLCLTAYLL TLDAGRLLYI
GQNEWTHVNC ALWSAEVFED DDGSLKNVHM AVIRGKQLRC EFCQKPGATV GCCLTSCTSN
YHFMCSRAKN CVFLDDKKVY CQRHRDLIKG EVVPENGFEV FRRVFVDFEG ISLRRKFLNG
LEPENIHMMI GSMTIDCLGI LNDLSDCEDK LFPIGYQCSR VYWSTTDARK RCVYTCKIVE
CRPPVVEPDI NSTVEHDENR TIAHSPTSFT ESSSKESQNT AEIISPPSPD RPPHSQTSGS
CYYHVISKVP RIRTPSYSPT QRSPGCRPLP SAGSPTPTTH EIVTVGDPLL SSGLRSIGSR
RHSTSSLSPQ RSKLRIMSPM RTGNTYSRNN VSSVSTTGTA TDLESSAKVV DHVLGPLNSS
TSLGQNTSTS SNLQRTVVTV GNKNSHLDGS SSSEMKQSSA SDLVSKSSSL KGEKTKVLSS
KSSEGSAHNV AYPGIPKLAP QVHNTTSREL NVSKIGSFAE PSSVSFSSKE ALSFPHLHLR
GQRNDRDQHT DSTQSANSSP DEDTEVKTLK LSGMSNRSSI INEHMGSSSR DRRQKGKKSC
KETFKEKHSS KSFLEPGQVT TGEEGNLKPE FMDEVLTPEY MGQRPCNNVS SDKIGDKGLS
MPGVPKAPPM QVEGSAKELQ APRKRTVKVT LTPLKMENES QSKNALKESS PASPLQIEST
SPTEPISASE NPGDGPVAQP SPNNTSCQDS QSNNYQNLPV QDRNLMLPDG PKPQEDGSFK
RRYPRRSARA RSNMFFGLTP LYGVRSYGEE DIPFYSSSTG KKRGKRSAEG QVDGADDLST
SDEDDLYYYN FTRTVISSGG EERLASHNLF REEEQCDLPK ISQLDGVDDG TESDTSVTAT
TRKSSQIPKR NGKENGTENL KIDRPEDAGE KEHVTKSSVG HKNEPKMDNC HSVSRVKTQG
QDSLEAQLSS LESSRRVHTS TPSDKNLLDT YNTELLKSDS DNNNSDDCGN ILPSDIMDFV
LKNTPSMQAL GESPESSSSE LLNLGEGLGL DSNREKDMGL FEVFSQQLPT TEPVDSSVSS
SISAEEQFEL PLELPSDLSV LTTRSPTVPS QNPSRLAVIS DSGEKRVTIT EKSVASSESD
PALLSPGVDP TPEGHMTPDH FIQGHMDADH ISSPPCGSVE QGHGNNQDLT RNSSTPGLQV
PVSPTVPIQN QKYVPNSTDS PGPSQISNAA VQTTPPHLKP ATEKLIVVNQ NMQPLYVLQT
LPNGVTQKIQ LTSSVSSTPS VMETNTSVLG PMGGGLTLTT GLNPSLPTSQ SLFPSASKGL
LPMSHHQHLH SFPAATQSSF PPNISNPPSG LLIGVQPPPD PQLLVSESSQ RTDLSTTVAT
PSSGLKKRPI SRLQTRKNKK LAPSSTPSNI APSDVVSNMT LINFTPSQLP NHPSLLDLGS
LNTSSHRTVP NIIKRSKSSI MYFEPAPLLP QSVGGTAATA AGTSTISQDT SHLTSGSVSG
LASSSSVLNV VSMQTTTTPT SSASVPGHVT LTNPRLLGTP DIGSISNLLI KASQQSLGIQ
DQPVALPPSS GMFPQLGTSQ TPSTAAITAA SSICVLPSTQ TTGITAASPS GEADEHYQLQ
HVNQLLASKT GIHSSQRDLD SASGPQVSNF TQTVDAPNSM GLEQNKALSS AVQASPTSPG
GSPSSPSSGQ RSASPSVPGP TKPKPKTKRF QLPLDKGNGK KHKVSHLRTS SSEAHIPDQE
TTSLTSGTGT PGAEAEQQDT ASVEQSSQKE CGQPAGQVAV LPEVQVTQNP ANEQESAEPK
TVEEEESNFS SPLMLWLQQE QKRKESITEK KPKKGLVFEI SSDDGFQICA ESIEDAWKSL
TDKVQEARSN ARLKQLSFAG VNGLRMLGIL HDAVVFLIEQ LSGAKHCRNY KFRFHKPEEA
NEPPLNPHGS ARAEVHLRKS AFDMFNFLAS KHRQPPEYNP NDEEEEEVQL KSARRATSMD
LPMPMRFRHL KKTSKEAVGV YRSPIHGRGL FCKRNIDAGE MVIEYAGNVI RSIQTDKREK
YYDSKGIGCY MFRIDDSEVV DATMHGNAAR FINHSCEPNC YSRVINIDGQ KHIVIFAMRK
IYRGEELTYD YKFPIEDASN KLPCNCGAKK CRKFLN*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSDEMYEIL SNLPESVAYT
CVNCTERHPA EWRLALEKEL QISLKQVLTA LLNSRTTSHL LRYRQAAKPP DLNPETEESI
PSRSSPEGPD PPVLTEVSKQ DDQQPLDLEG VKRKMDQGNY TSVLEFSDDI VKIIQAAINS
DGGQPEIKKA NSMVKSFFIR QMERVFPWFS VKKSRFWEPN KVSSNSGMLP NAVLPPSLDH
NYAQWQEREE NSHTEQPPLM KKIIPAPKPK GPGEPDSPTP LHPPTPPILS TDRSREDSPE
LNPPPGIEDN RQCALCLTYG DDSANDSRIV KSPSSAACLN TFLCLTAYLL TLDAGRLLYI
GQNEWTHVNC ALWSAEVFED DDGSLKNVHM AVIRGKQLRC EFCQKPGATV GCCLTSCTSN
YHFMCSRAKN CVFLDDKKVY CQRHRDLIKG EVVPENGFEV FRRVFVDFEG ISLRRKFLNG
LEPENIHMMI GSMTIDCLGI LNDLSDCEDK LFPIGYQCSR VYWSTTDARK RCVYTCKIVE
CRPPVVEPDI NSTVEHDENR TIAHSPTSFT ESSSKESQNT AEIISPPSPD RPPHSQTSGS
CYYHVISKVP RIRTPSYSPT QRSPGCRPLP SAGSPTPTTH EIVTVGDPLL SSGLRSIGSR
RHSTSSLSPQ RSKLRIMSPM RTGNTYSRNN VSSVSTTGTA TDLESSAKVV DHVLGPLNSS
TSLGQNTSTS SNLQRTVVTV GNKNSHLDGS SSSEMKQSSA SDLVSKSSSL KGEKTKVLSS
KSSEGSAHNV AYPGIPKLAP QVHNTTSREL NVSKIGSFAE PSSVSFSSKE ALSFPHLHLR
GQRNDRDQHT DSTQSANSSP DEDTEVKTLK LSGMSNRSSI INEHMGSSSR DRRQKGKKSC
KETFKEKHSS KSFLEPGQVT TGEEGNLKPE FMDEVLTPEY MGQRPCNNVS SDKIGDKGLS
MPGVPKAPPM QVEGSAKELQ APRKRTVKVT LTPLKMENES QSKNALKESS PASPLQIEST
SPTEPISASE NPGDGPVAQP SPNNTSCQDS QSNNYQNLPV QDRNLMLPDG PKPQEDGSFK
RRYPRRSARA RSNMFFGLTP LYGVRSYGEE DIPFYSSSTG KKRGKRSAEG QVDGADDLST
SDEDDLYYYN FTRTVISSGG EERLASHNLF REEEQCDLPK ISQLDGVDDG TVILVSQPQQ
GKAARFQKEM VKKMEQRT*

Position of stopcodon in wt / mu CDS

11991 / 8337

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

3997 / 2779

Position of stopcodon in wt / mu cDNA

11999 / 8345

Position of start ATG in wt / mu cDNA

9 / 9

Last intron/exon boundary

11723

Theoretical NMD boundary in CDS

11664

Length of CDS

11991

Coding sequence (CDS) position

8252 / 8257

cDNA position

8260 / 8265

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

11:118504072CAGAG>C_6_ENST00000531904

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.06, LOF (oe): 0.02, misssense (oe): 0.70, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000531904.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.8280_8283delAGAG
g.67618_67621delAGAG

AA changes

E2761Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2761	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D
mutated	partly conserved	1017								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGELTTQIP CSWRTKGHIH DKKTEPFRLL AWSWCLNDEQ
FLGFGSDEEV RVRSPTRSPS VKTSPRKPRG RPRSGSDRNS AILSDPSVFS PLNKSETKSG
DKIKKKDSKS IEKKRGRPPT FPGVKIKITH GKDISELPKG NKEDSLKKIK RTPSATFQQA
TKIKKLRAGK LSPLKSKFKT GKLQIGRKGV QIVRRRGRPP STERIKTPSG LLINSELEKP
QKVRKDKEGT PPLTKEDKTV VRQSPRRIKP VRIIPSSKRT DATIAKQLLQ RAKKGAQKKI
EKEAAQLQGR KVKTQVKNIR QFIMPVVSAI SSRIIKTPRR FIEDEDYDPP IKIARLESTP
NSRFSAPSCG SSEKSSAASQ HSSQMSSDSS RSSSPSVDTS TDSQASEEIQ VLPEERSDTP
EVHPPLPISQ SPENESNDRR SRRYSVSERS FGSRTTKKLS TLQSAPQQQT SSSPPPPLLT
PPPPLQPASS ISDHTPWLMP PTIPLASPFL PASTAPMQGK RKSILREPTF RWTSLKHSRS
EPQYFSSAKY AKEGLIRKPI FDNFRPPPLT PEDVGFASGF SASGTAASAR LFSPLHSGTR
FDMHKRSPLL RAPRFTPSEA HSRIFESVTL PSNRTSAGTS SSGVSNRKRK RKVFSPIRSE
PRSPSHSMRT RSGRLSSSEL SPLTPPSSVS SSLSISVSPL ATSALNPTFT FPSHSLTQSG
ESAEKNQRPR KQTSAPAEPF SSSSPTPLFP WFTPGSQTER GRNKDKAPEE LSKDRDADKS
VEKDKSRERD REREKENKRE SRKEKRKKGS EIQSSSALYP VGRVSKEKVV GEDVATSSSA
KKATGRKKSS SHDSGTDITS VTLGDTTAVK TKILIKKGRG NLEKTNLDLG PTAPSLEKEK
TLCLSTPSSS TVKHSTSSIG SMLAQADKLP MTDKRVASLL KKAKAQLCKI EKSKSLKQTD
QPKAQGQESD SSETSVRGPR IKHVCRRAAV ALGRKRAVFP DDMPTLSALP WEEREKILSS
MGNDDKSSIA GSEDAEPLAP PIKPIKPVTR NKAPQEPPVK KGRRSRRCGQ CPGCQVPEDC
GVCTNCLDKP KFGGRNIKKQ CCKMRKCQNL QWMPSKAYLQ KQAKAVKKKE KKSKTSEKKD
SKESSVVKNV VDSSQKPTPS AREDPAPKKS SSEPPPRKPV EEKSEEGNVS APGPESKQAT
TPASRKSSKQ VSQPALVIPP QPPTTGPPRK EVPKTTPSEP KKKQPPPPES GPEQSKQKKV
APRPSIPVKQ KPKEKEKPPP VNKQENAGTL NILSTLSNGN SSKQKIPADG VHRIRVDFKE
DCEAENVWEM GGLGILTSVP ITPRVVCFLC ASSGHVEFVY CQVCCEPFHK FCLEENERPL
EDQLENWCCR RCKFCHVCGR QHQATKQLLE CNKCRNSYHP ECLGPNYPTK PTKKKKVWIC
TKCVRCKSCG STTPGKGWDA QWSHDFSLCH DCAKLFAKGN FCPLCDKCYD DDDYESKMMQ
CGKCDRWVHS KCENLSGTED EMYEILSNLP ESVAYTCVNC TERHPAEWRL ALEKELQISL
KQVLTALLNS RTTSHLLRYR QAAKPPDLNP ETEESIPSRS SPEGPDPPVL TEVSKQDDQQ
PLDLEGVKRK MDQGNYTSVL EFSDDIVKII QAAINSDGGQ PEIKKANSMV KSFFIRQMER
VFPWFSVKKS RFWEPNKVSS NSGMLPNAVL PPSLDHNYAQ WQEREENSHT EQPPLMKKII
PAPKPKGPGE PDSPTPLHPP TPPILSTDRS REDSPELNPP PGIEDNRQCA LCLTYGDDSA
NDAGRLLYIG QNEWTHVNCA LWSAEVFEDD DGSLKNVHMA VIRGKQLRCE FCQKPGATVG
CCLTSCTSNY HFMCSRAKNC VFLDDKKVYC QRHRDLIKGE VVPENGFEVF RRVFVDFEGI
SLRRKFLNGL EPENIHMMIG SMTIDCLGIL NDLSDCEDKL FPIGYQCSRV YWSTTDARKR
CVYTCKIVEC RPPVVEPDIN STVEHDENRT IAHSPTSFTE SSSKESQNTA EIISPPSPDR
PPHSQTSGSC YYHVISKVPR IRTPSYSPTQ RSPGCRPLPS AGSPTPTTHE IVTVGDPLLS
SGLRSIGSRR HSTSSLSPQR SKLRIMSPMR TGNTYSRNNV SSVSTTGTAT DLESSAKVVD
HVLGPLNSST SLGQNTSTSS NLQRTVVTVG NKNSHLDGSS SSEMKQSSAS DLVSKSSSLK
GEKTKVLSSK SSEGSAHNVA YPGIPKLAPQ VHNTTSRELN VSKIGSFAEP SSVSFSSKEA
LSFPHLHLRG QRNDRDQHTD STQSANSSPD EDTEVKTLKL SGMSNRSSII NEHMGSSSRD
RRQKGKKSCK ETFKEKHSSK SFLEPGQVTT GEEGNLKPEF MDEVLTPEYM GQRPCNNVSS
DKIGDKGLSM PGVPKAPPMQ VEGSAKELQA PRKRTVKVTL TPLKMENESQ SKNALKESSP
ASPLQIESTS PTEPISASEN PGDGPVAQPS PNNTSCQDSQ SNNYQNLPVQ DRNLMLPDGP
KPQEDGSFKR RYPRRSARAR SNMFFGLTPL YGVRSYGEED IPFYSSSTGK KRGKRSAEGQ
VDGADDLSTS DEDDLYYYNF TRTVISSGGE ERLASHNLFR EEEQCDLPKI SQLDGVDDGT
ESDTSVTATT RKSSQIPKRN GKENGTENLK IDRPEDAGEK EHVTKSSVGH KNEPKMDNCH
SVSRVKTQGQ DSLEAQLSSL ESSRRVHTST PSDKNLLDTY NTELLKSDSD NNNSDDCGNI
LPSDIMDFVL KNTPSMQALG ESPESSSSEL LNLGEGLGLD SNREKDMGLF EVFSQQLPTT
EPVDSSVSSS ISAEEQFELP LELPSDLSVL TTRSPTVPSQ NPSRLAVISD SGEKRVTITE
KSVASSESDP ALLSPGVDPT PEGHMTPDHF IQGHMDADHI SSPPCGSVEQ GHGNNQDLTR
NSSTPGLQVP VSPTVPIQNQ KYVPNSTDSP GPSQISNAAV QTTPPHLKPA TEKLIVVNQN
MQPLYVLQTL PNGVTQKIQL TSSVSSTPSV METNTSVLGP MGGGLTLTTG LNPSLPTSQS
LFPSASKGLL PMSHHQHLHS FPAATQSSFP PNISNPPSGL LIGVQPPPDP QLLVSESSQR
TDLSTTVATP SSGLKKRPIS RLQTRKNKKL APSSTPSNIA PSDVVSNMTL INFTPSQLPN
HPSLLDLGSL NTSSHRTVPN IIKRSKSSIM YFEPAPLLPQ SVGGTAATAA GTSTISQDTS
HLTSGSVSGL ASSSSVLNVV SMQTTTTPTS SASVPGHVTL TNPRLLGTPD IGSISNLLIK
ASQQSLGIQD QPVALPPSSG MFPQLGTSQT PSTAAITAAS SICVLPSTQT TGITAASPSG
EADEHYQLQH VNQLLASKTG IHSSQRDLDS ASGPQVSNFT QTVDAPNSMG LEQNKALSSA
VQASPTSPGG SPSSPSSGQR SASPSVPGPT KPKPKTKRFQ LPLDKGNGKK HKVSHLRTSS
SEAHIPDQET TSLTSGTGTP GAEAEQQDTA SVEQSSQKEC GQPAGQVAVL PEVQVTQNPA
NEQESAEPKT VEEEESNFSS PLMLWLQQEQ KRKESITEKK PKKGLVFEIS SDDGFQICAE
SIEDAWKSLT DKVQEARSNA RLKQLSFAGV NGLRMLGILH DAVVFLIEQL SGAKHCRNYK
FRFHKPEEAN EPPLNPHGSA RAEVHLRKSA FDMFNFLASK HRQPPEYNPN DEEEEEVQLK
SARRATSMDL PMPMRFRHLK KTSKEAVGVY RSPIHGRGLF CKRNIDAGEM VIEYAGNVIR
SIQTDKREKY YDSKGIGCYM FRIDDSEVVD ATMHGNAARF INHSCEPNCY SRVINIDGQK
HIVIFAMRKI YRGEELTYDY KFPIEDASNK LPCNCGAKKC RKFLN*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGELTTQIP CSWRTKGHIH DKKTEPFRLL AWSWCLNDEQ
FLGFGSDEEV RVRSPTRSPS VKTSPRKPRG RPRSGSDRNS AILSDPSVFS PLNKSETKSG
DKIKKKDSKS IEKKRGRPPT FPGVKIKITH GKDISELPKG NKEDSLKKIK RTPSATFQQA
TKIKKLRAGK LSPLKSKFKT GKLQIGRKGV QIVRRRGRPP STERIKTPSG LLINSELEKP
QKVRKDKEGT PPLTKEDKTV VRQSPRRIKP VRIIPSSKRT DATIAKQLLQ RAKKGAQKKI
EKEAAQLQGR KVKTQVKNIR QFIMPVVSAI SSRIIKTPRR FIEDEDYDPP IKIARLESTP
NSRFSAPSCG SSEKSSAASQ HSSQMSSDSS RSSSPSVDTS TDSQASEEIQ VLPEERSDTP
EVHPPLPISQ SPENESNDRR SRRYSVSERS FGSRTTKKLS TLQSAPQQQT SSSPPPPLLT
PPPPLQPASS ISDHTPWLMP PTIPLASPFL PASTAPMQGK RKSILREPTF RWTSLKHSRS
EPQYFSSAKY AKEGLIRKPI FDNFRPPPLT PEDVGFASGF SASGTAASAR LFSPLHSGTR
FDMHKRSPLL RAPRFTPSEA HSRIFESVTL PSNRTSAGTS SSGVSNRKRK RKVFSPIRSE
PRSPSHSMRT RSGRLSSSEL SPLTPPSSVS SSLSISVSPL ATSALNPTFT FPSHSLTQSG
ESAEKNQRPR KQTSAPAEPF SSSSPTPLFP WFTPGSQTER GRNKDKAPEE LSKDRDADKS
VEKDKSRERD REREKENKRE SRKEKRKKGS EIQSSSALYP VGRVSKEKVV GEDVATSSSA
KKATGRKKSS SHDSGTDITS VTLGDTTAVK TKILIKKGRG NLEKTNLDLG PTAPSLEKEK
TLCLSTPSSS TVKHSTSSIG SMLAQADKLP MTDKRVASLL KKAKAQLCKI EKSKSLKQTD
QPKAQGQESD SSETSVRGPR IKHVCRRAAV ALGRKRAVFP DDMPTLSALP WEEREKILSS
MGNDDKSSIA GSEDAEPLAP PIKPIKPVTR NKAPQEPPVK KGRRSRRCGQ CPGCQVPEDC
GVCTNCLDKP KFGGRNIKKQ CCKMRKCQNL QWMPSKAYLQ KQAKAVKKKE KKSKTSEKKD
SKESSVVKNV VDSSQKPTPS AREDPAPKKS SSEPPPRKPV EEKSEEGNVS APGPESKQAT
TPASRKSSKQ VSQPALVIPP QPPTTGPPRK EVPKTTPSEP KKKQPPPPES GPEQSKQKKV
APRPSIPVKQ KPKEKEKPPP VNKQENAGTL NILSTLSNGN SSKQKIPADG VHRIRVDFKE
DCEAENVWEM GGLGILTSVP ITPRVVCFLC ASSGHVEFVY CQVCCEPFHK FCLEENERPL
EDQLENWCCR RCKFCHVCGR QHQATKQLLE CNKCRNSYHP ECLGPNYPTK PTKKKKVWIC
TKCVRCKSCG STTPGKGWDA QWSHDFSLCH DCAKLFAKGN FCPLCDKCYD DDDYESKMMQ
CGKCDRWVHS KCENLSGTED EMYEILSNLP ESVAYTCVNC TERHPAEWRL ALEKELQISL
KQVLTALLNS RTTSHLLRYR QAAKPPDLNP ETEESIPSRS SPEGPDPPVL TEVSKQDDQQ
PLDLEGVKRK MDQGNYTSVL EFSDDIVKII QAAINSDGGQ PEIKKANSMV KSFFIRQMER
VFPWFSVKKS RFWEPNKVSS NSGMLPNAVL PPSLDHNYAQ WQEREENSHT EQPPLMKKII
PAPKPKGPGE PDSPTPLHPP TPPILSTDRS REDSPELNPP PGIEDNRQCA LCLTYGDDSA
NDAGRLLYIG QNEWTHVNCA LWSAEVFEDD DGSLKNVHMA VIRGKQLRCE FCQKPGATVG
CCLTSCTSNY HFMCSRAKNC VFLDDKKVYC QRHRDLIKGE VVPENGFEVF RRVFVDFEGI
SLRRKFLNGL EPENIHMMIG SMTIDCLGIL NDLSDCEDKL FPIGYQCSRV YWSTTDARKR
CVYTCKIVEC RPPVVEPDIN STVEHDENRT IAHSPTSFTE SSSKESQNTA EIISPPSPDR
PPHSQTSGSC YYHVISKVPR IRTPSYSPTQ RSPGCRPLPS AGSPTPTTHE IVTVGDPLLS
SGLRSIGSRR HSTSSLSPQR SKLRIMSPMR TGNTYSRNNV SSVSTTGTAT DLESSAKVVD
HVLGPLNSST SLGQNTSTSS NLQRTVVTVG NKNSHLDGSS SSEMKQSSAS DLVSKSSSLK
GEKTKVLSSK SSEGSAHNVA YPGIPKLAPQ VHNTTSRELN VSKIGSFAEP SSVSFSSKEA
LSFPHLHLRG QRNDRDQHTD STQSANSSPD EDTEVKTLKL SGMSNRSSII NEHMGSSSRD
RRQKGKKSCK ETFKEKHSSK SFLEPGQVTT GEEGNLKPEF MDEVLTPEYM GQRPCNNVSS
DKIGDKGLSM PGVPKAPPMQ VEGSAKELQA PRKRTVKVTL TPLKMENESQ SKNALKESSP
ASPLQIESTS PTEPISASEN PGDGPVAQPS PNNTSCQDSQ SNNYQNLPVQ DRNLMLPDGP
KPQEDGSFKR RYPRRSARAR SNMFFGLTPL YGVRSYGEED IPFYSSSTGK KRGKRSAEGQ
VDGADDLSTS DEDDLYYYNF TRTVISSGGE ERLASHNLFR EEEQCDLPKI SQLDGVDDGT
VILVSQPQQG KAARFQKEMV KKMEQRT*

Position of stopcodon in wt / mu CDS

12018 / 8364

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

4006 / 2788

Position of stopcodon in wt / mu cDNA

12039 / 8385

Position of start ATG in wt / mu cDNA

22 / 22

Last intron/exon boundary

11763

Theoretical NMD boundary in CDS

11691

Length of CDS

12018

Coding sequence (CDS) position

8279 / 8284

cDNA position

8300 / 8305

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

11:118504072CAGAG>C_5_ENST00000534358

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known as potential disease variant: ClinVar ID 666323 (likely pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:118504073_118504076delAGAG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.07, LOF (oe): 0.04, misssense (oe): 0.65, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000534358.8

Genbank transcript ID

NM_001197104 (exact from MANE)

UniProt / AlphaMissense peptide

KMT2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.8181_8184delAGAG
g.67618_67621delAGAG

AA changes

E2728Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Wiedemann-Steiner syndrome

likely pathogenic

Variant DBs

	Not in dbSNP
	Allele '-' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		2728	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I	L	P	S	D	I	M	D	F	V	L	K	N
mutated	partly conserved	984								A	P	S	L	E	K	E	K	T	L	C	L	S	T	P	S	S	S	T	V	-	K	H	S	T	S	S	I	G	S	M	L	A	Q	A	D	KLP	M	T	D	K	R	V	A	S	L	L	K	K	A	K	A	Q	L	C	K	I	E	K	S	K	S	L	K	Q	T	D	Q	P	K	A	Q	G	Q	E	S	-	D	S	S	E	T	S	V	R	G	P	R	I	K	H	V	C	R	R	A	A	V	A	L	G	R	K	R	A	V	F	P	D	D	M	P	T	L	S	A	L	P
Ptroglodytes	all conserved	2739	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	D	H	V	T	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S
Mmulatta	partly conserved	2757												E	S	D	T	S	V	T	A	T	T	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	I	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I
Fcatus	partly conserved	2757												E	S	D	T	S	V	T	A	T	A	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	M	E	R	P	E	D	A	G	E	K	E	H	V	I	K	S	S	V	G	H	K	N	E	P	K	M	D	N	C	H	S	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P	S	D	K	N	L	L	D	T	Y	N	T	E	L	L	K	S	D	S	D	N	N	N	S	D	D	C	G	N	I
Mmusculus	partly conserved	2721	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	S	R	K	S	S	Q	I	P	K	R	N	G	K	E	N	G	T	E	N	L	K	I	D	R	P	E	D	A	G	E	K	E	H	V	I	K	S	A	V	G	H	K	N	E	P	K	L	D	N	C	H	S	V	S	R	V	K	A	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	S	S	R	R	V	H	T	S	T	P
Ggallus	partly conserved	2521	I	S	Q	L	D	G	V	D	D	G	T	E	S	D	T	S	V	T	A	T	T	R	K	V	N	Q	V	T	K	R	S	G	K	E	N	G	T	E	N	L	K	L	D	R	T	E	E	T	G	E	K	V	Q	V	T	K	S	P	A	V	H	K	T	D	P	K	M	D	N	C	H	P	V	S	R	V	K	T	Q	G	Q	D	S	L	E	A	Q	L	S	S	L	E	T	G	R	R	A	H	A	S	T	P	S	D	K	N	L	L	D	T	F	N	T	E	L	L	K	S	D
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	2632	I	P	Q	L	D	G	V	D	D	E	A	E	C	N	T	S	V	T	V	T	-	-	K	S	S	Q	A	G	K	R	S	G	K	Q	N	G	A	G	-	-	K	L	Q	T	P	E	G	Q	L	E	K	S	H	V	G	K	G	Q	-	-	K	T	S	E	P	K	I	E	N	C	H	A	V	K	-	-	-	-	-	-	Q	D	T	L	E	A	Q	L	A	-	L	D	T	P	R	R	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	3969	CHAIN		lost
2713	2821	REGION		lost
2719	3969	CHAIN		lost
2721	2746	COMPBIAS	Polar residues	lost
2747	2784	COMPBIAS	Basic and acidic residues	lost
2785	2821	COMPBIAS	Polar residues	lost
2796	2796	MOD_RES	Phosphoserine	lost
2847	2855	MOTIF	9aaTAD	lost
2847	2855	HELIX		lost
2955	2955	MOD_RES	Phosphoserine	lost
2958	2958	MOD_RES	N6-acetyllysine	lost
2961	3064	REGION		lost
3011	3064	COMPBIAS	Polar residues	lost
3036	3036	MOD_RES	Phosphoserine	lost
3166	3183	COMPBIAS	Polar residues	lost
3166	3244	REGION		lost
3195	3222	COMPBIAS	Polar residues	lost
3230	3244	COMPBIAS	Polar residues	lost
3372	3372	MOD_RES	Phosphothreonine	lost
3462	3462	MOD_RES	N6-acetyllysine	lost
3464	3530	COMPBIAS	Polar residues	lost
3464	3608	REGION		lost
3511	3511	MOD_RES	Phosphoserine	lost
3515	3515	MOD_RES	Phosphoserine	lost
3527	3527	MOD_RES	Phosphoserine	lost
3563	3606	COMPBIAS	Polar residues	lost
3620	3643	REGION		lost
3666	3747	DOMAIN	FYR C-terminal	lost
3762	3767	MOTIF	WDR5 interaction motif (WIN)	lost
3764	3766	HELIX		lost
3765	3765	SITE	Important for WDR5-recognition and binding	lost
3785	3808	REGION		lost
3796	3799	HELIX		lost
3809	3811	HELIX		lost
3816	3820	HELIX		lost
3823	3830	HELIX		lost
3829	3945	DOMAIN	SET	lost
3831	3835	STRAND		lost
3837	3847	STRAND		lost
3839	3839	BINDING	S-adenosyl-L-methionine	lost
3841	3841	BINDING	S-adenosyl-L-methionine	lost
3854	3857	STRAND		lost
3860	3864	STRAND		lost
3865	3867	HELIX		lost
3868	3877	HELIX		lost
3882	3882	MOD_RES	S-methylcysteine	lost
3883	3883	BINDING	S-adenosyl-L-methionine	lost
3884	3886	STRAND		lost
3888	3894	STRAND		lost
3896	3898	TURN		lost
3901	3904	HELIX		lost
3906	3907	BINDING	S-adenosyl-L-methionine	lost
3909	3909	BINDING	Zn(2+)	lost
3912	3920	STRAND		lost
3923	3932	STRAND		lost
3939	3942	STRAND		lost
3951	3953	HELIX		lost
3953	3969	DOMAIN	Post-SET	lost
3957	3957	BINDING	Zn(2+)	lost
3958	3958	BINDING	S-adenosyl-L-methionine	lost
3959	3959	BINDING	Zn(2+)	lost
3964	3964	BINDING	Zn(2+)	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.298	1
	0.509	0.996
	9.254	1
	8.624	1
	2.257	1
(flanking)	6.661	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered gDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Original cDNA sequence snippet

GATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGC

Altered cDNA sequence snippet

GATGGTGTTGATGATGGGACAGTGATACTAGTGTCACAGC

Wildtype AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSGTEDEMY EILSNLPESV
AYTCVNCTER HPAEWRLALE KELQISLKQV LTALLNSRTT SHLLRYRQAA KPPDLNPETE
ESIPSRSSPE GPDPPVLTEV SKQDDQQPLD LEGVKRKMDQ GNYTSVLEFS DDIVKIIQAA
INSDGGQPEI KKANSMVKSF FIRQMERVFP WFSVKKSRFW EPNKVSSNSG MLPNAVLPPS
LDHNYAQWQE REENSHTEQP PLMKKIIPAP KPKGPGEPDS PTPLHPPTPP ILSTDRSRED
SPELNPPPGI EDNRQCALCL TYGDDSANDA GRLLYIGQNE WTHVNCALWS AEVFEDDDGS
LKNVHMAVIR GKQLRCEFCQ KPGATVGCCL TSCTSNYHFM CSRAKNCVFL DDKKVYCQRH
RDLIKGEVVP ENGFEVFRRV FVDFEGISLR RKFLNGLEPE NIHMMIGSMT IDCLGILNDL
SDCEDKLFPI GYQCSRVYWS TTDARKRCVY TCKIVECRPP VVEPDINSTV EHDENRTIAH
SPTSFTESSS KESQNTAEII SPPSPDRPPH SQTSGSCYYH VISKVPRIRT PSYSPTQRSP
GCRPLPSAGS PTPTTHEIVT VGDPLLSSGL RSIGSRRHST SSLSPQRSKL RIMSPMRTGN
TYSRNNVSSV STTGTATDLE SSAKVVDHVL GPLNSSTSLG QNTSTSSNLQ RTVVTVGNKN
SHLDGSSSSE MKQSSASDLV SKSSSLKGEK TKVLSSKSSE GSAHNVAYPG IPKLAPQVHN
TTSRELNVSK IGSFAEPSSV SFSSKEALSF PHLHLRGQRN DRDQHTDSTQ SANSSPDEDT
EVKTLKLSGM SNRSSIINEH MGSSSRDRRQ KGKKSCKETF KEKHSSKSFL EPGQVTTGEE
GNLKPEFMDE VLTPEYMGQR PCNNVSSDKI GDKGLSMPGV PKAPPMQVEG SAKELQAPRK
RTVKVTLTPL KMENESQSKN ALKESSPASP LQIESTSPTE PISASENPGD GPVAQPSPNN
TSCQDSQSNN YQNLPVQDRN LMLPDGPKPQ EDGSFKRRYP RRSARARSNM FFGLTPLYGV
RSYGEEDIPF YSSSTGKKRG KRSAEGQVDG ADDLSTSDED DLYYYNFTRT VISSGGEERL
ASHNLFREEE QCDLPKISQL DGVDDGTESD TSVTATTRKS SQIPKRNGKE NGTENLKIDR
PEDAGEKEHV TKSSVGHKNE PKMDNCHSVS RVKTQGQDSL EAQLSSLESS RRVHTSTPSD
KNLLDTYNTE LLKSDSDNNN SDDCGNILPS DIMDFVLKNT PSMQALGESP ESSSSELLNL
GEGLGLDSNR EKDMGLFEVF SQQLPTTEPV DSSVSSSISA EEQFELPLEL PSDLSVLTTR
SPTVPSQNPS RLAVISDSGE KRVTITEKSV ASSESDPALL SPGVDPTPEG HMTPDHFIQG
HMDADHISSP PCGSVEQGHG NNQDLTRNSS TPGLQVPVSP TVPIQNQKYV PNSTDSPGPS
QISNAAVQTT PPHLKPATEK LIVVNQNMQP LYVLQTLPNG VTQKIQLTSS VSSTPSVMET
NTSVLGPMGG GLTLTTGLNP SLPTSQSLFP SASKGLLPMS HHQHLHSFPA ATQSSFPPNI
SNPPSGLLIG VQPPPDPQLL VSESSQRTDL STTVATPSSG LKKRPISRLQ TRKNKKLAPS
STPSNIAPSD VVSNMTLINF TPSQLPNHPS LLDLGSLNTS SHRTVPNIIK RSKSSIMYFE
PAPLLPQSVG GTAATAAGTS TISQDTSHLT SGSVSGLASS SSVLNVVSMQ TTTTPTSSAS
VPGHVTLTNP RLLGTPDIGS ISNLLIKASQ QSLGIQDQPV ALPPSSGMFP QLGTSQTPST
AAITAASSIC VLPSTQTTGI TAASPSGEAD EHYQLQHVNQ LLASKTGIHS SQRDLDSASG
PQVSNFTQTV DAPNSMGLEQ NKALSSAVQA SPTSPGGSPS SPSSGQRSAS PSVPGPTKPK
PKTKRFQLPL DKGNGKKHKV SHLRTSSSEA HIPDQETTSL TSGTGTPGAE AEQQDTASVE
QSSQKECGQP AGQVAVLPEV QVTQNPANEQ ESAEPKTVEE EESNFSSPLM LWLQQEQKRK
ESITEKKPKK GLVFEISSDD GFQICAESIE DAWKSLTDKV QEARSNARLK QLSFAGVNGL
RMLGILHDAV VFLIEQLSGA KHCRNYKFRF HKPEEANEPP LNPHGSARAE VHLRKSAFDM
FNFLASKHRQ PPEYNPNDEE EEEVQLKSAR RATSMDLPMP MRFRHLKKTS KEAVGVYRSP
IHGRGLFCKR NIDAGEMVIE YAGNVIRSIQ TDKREKYYDS KGIGCYMFRI DDSEVVDATM
HGNAARFINH SCEPNCYSRV INIDGQKHIV IFAMRKIYRG EELTYDYKFP IEDASNKLPC
NCGAKKCRKF LN*

Mutated AA sequence

MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA
AIGTNLRRFR AVFGESGGGG GSGEDEQFLG FGSDEEVRVR SPTRSPSVKT SPRKPRGRPR
SGSDRNSAIL SDPSVFSPLN KSETKSGDKI KKKDSKSIEK KRGRPPTFPG VKIKITHGKD
ISELPKGNKE DSLKKIKRTP SATFQQATKI KKLRAGKLSP LKSKFKTGKL QIGRKGVQIV
RRRGRPPSTE RIKTPSGLLI NSELEKPQKV RKDKEGTPPL TKEDKTVVRQ SPRRIKPVRI
IPSSKRTDAT IAKQLLQRAK KGAQKKIEKE AAQLQGRKVK TQVKNIRQFI MPVVSAISSR
IIKTPRRFIE DEDYDPPIKI ARLESTPNSR FSAPSCGSSE KSSAASQHSS QMSSDSSRSS
SPSVDTSTDS QASEEIQVLP EERSDTPEVH PPLPISQSPE NESNDRRSRR YSVSERSFGS
RTTKKLSTLQ SAPQQQTSSS PPPPLLTPPP PLQPASSISD HTPWLMPPTI PLASPFLPAS
TAPMQGKRKS ILREPTFRWT SLKHSRSEPQ YFSSAKYAKE GLIRKPIFDN FRPPPLTPED
VGFASGFSAS GTAASARLFS PLHSGTRFDM HKRSPLLRAP RFTPSEAHSR IFESVTLPSN
RTSAGTSSSG VSNRKRKRKV FSPIRSEPRS PSHSMRTRSG RLSSSELSPL TPPSSVSSSL
SISVSPLATS ALNPTFTFPS HSLTQSGESA EKNQRPRKQT SAPAEPFSSS SPTPLFPWFT
PGSQTERGRN KDKAPEELSK DRDADKSVEK DKSRERDRER EKENKRESRK EKRKKGSEIQ
SSSALYPVGR VSKEKVVGED VATSSSAKKA TGRKKSSSHD SGTDITSVTL GDTTAVKTKI
LIKKGRGNLE KTNLDLGPTA PSLEKEKTLC LSTPSSSTVK HSTSSIGSML AQADKLPMTD
KRVASLLKKA KAQLCKIEKS KSLKQTDQPK AQGQESDSSE TSVRGPRIKH VCRRAAVALG
RKRAVFPDDM PTLSALPWEE REKILSSMGN DDKSSIAGSE DAEPLAPPIK PIKPVTRNKA
PQEPPVKKGR RSRRCGQCPG CQVPEDCGVC TNCLDKPKFG GRNIKKQCCK MRKCQNLQWM
PSKAYLQKQA KAVKKKEKKS KTSEKKDSKE SSVVKNVVDS SQKPTPSARE DPAPKKSSSE
PPPRKPVEEK SEEGNVSAPG PESKQATTPA SRKSSKQVSQ PALVIPPQPP TTGPPRKEVP
KTTPSEPKKK QPPPPESGPE QSKQKKVAPR PSIPVKQKPK EKEKPPPVNK QENAGTLNIL
STLSNGNSSK QKIPADGVHR IRVDFKEDCE AENVWEMGGL GILTSVPITP RVVCFLCASS
GHVEFVYCQV CCEPFHKFCL EENERPLEDQ LENWCCRRCK FCHVCGRQHQ ATKQLLECNK
CRNSYHPECL GPNYPTKPTK KKKVWICTKC VRCKSCGSTT PGKGWDAQWS HDFSLCHDCA
KLFAKGNFCP LCDKCYDDDD YESKMMQCGK CDRWVHSKCE NLSGTEDEMY EILSNLPESV
AYTCVNCTER HPAEWRLALE KELQISLKQV LTALLNSRTT SHLLRYRQAA KPPDLNPETE
ESIPSRSSPE GPDPPVLTEV SKQDDQQPLD LEGVKRKMDQ GNYTSVLEFS DDIVKIIQAA
INSDGGQPEI KKANSMVKSF FIRQMERVFP WFSVKKSRFW EPNKVSSNSG MLPNAVLPPS
LDHNYAQWQE REENSHTEQP PLMKKIIPAP KPKGPGEPDS PTPLHPPTPP ILSTDRSRED
SPELNPPPGI EDNRQCALCL TYGDDSANDA GRLLYIGQNE WTHVNCALWS AEVFEDDDGS
LKNVHMAVIR GKQLRCEFCQ KPGATVGCCL TSCTSNYHFM CSRAKNCVFL DDKKVYCQRH
RDLIKGEVVP ENGFEVFRRV FVDFEGISLR RKFLNGLEPE NIHMMIGSMT IDCLGILNDL
SDCEDKLFPI GYQCSRVYWS TTDARKRCVY TCKIVECRPP VVEPDINSTV EHDENRTIAH
SPTSFTESSS KESQNTAEII SPPSPDRPPH SQTSGSCYYH VISKVPRIRT PSYSPTQRSP
GCRPLPSAGS PTPTTHEIVT VGDPLLSSGL RSIGSRRHST SSLSPQRSKL RIMSPMRTGN
TYSRNNVSSV STTGTATDLE SSAKVVDHVL GPLNSSTSLG QNTSTSSNLQ RTVVTVGNKN
SHLDGSSSSE MKQSSASDLV SKSSSLKGEK TKVLSSKSSE GSAHNVAYPG IPKLAPQVHN
TTSRELNVSK IGSFAEPSSV SFSSKEALSF PHLHLRGQRN DRDQHTDSTQ SANSSPDEDT
EVKTLKLSGM SNRSSIINEH MGSSSRDRRQ KGKKSCKETF KEKHSSKSFL EPGQVTTGEE
GNLKPEFMDE VLTPEYMGQR PCNNVSSDKI GDKGLSMPGV PKAPPMQVEG SAKELQAPRK
RTVKVTLTPL KMENESQSKN ALKESSPASP LQIESTSPTE PISASENPGD GPVAQPSPNN
TSCQDSQSNN YQNLPVQDRN LMLPDGPKPQ EDGSFKRRYP RRSARARSNM FFGLTPLYGV
RSYGEEDIPF YSSSTGKKRG KRSAEGQVDG ADDLSTSDED DLYYYNFTRT VISSGGEERL
ASHNLFREEE QCDLPKISQL DGVDDGTVIL VSQPQQGKAA RFQKEMVKKM EQRT*

Position of stopcodon in wt / mu CDS

11919 / 8265

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

3973 / 2755

Position of stopcodon in wt / mu cDNA

11940 / 8286

Position of start ATG in wt / mu cDNA

22 / 22

Last intron/exon boundary

11664

Theoretical NMD boundary in CDS

11592

Length of CDS

11919

Coding sequence (CDS) position

8180 / 8185

cDNA position

8201 / 8206

gDNA position

67617 / 67622

Chromosomal position

118504072 / 118504077

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project