MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000638947
Querying Taster for transcript #2: ENST00000691544
Querying Taster for transcript #3: ENST00000409792
MT speed 0.22 s - this script 2.726852 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000691544	SETD2	Deleterious	10\|0	complex_aae	No	L167*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000638947	SETD2	Deleterious	10\|0	complex_aae	No	L1771*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000409792(MANE Select)	SETD2	Deleterious	10\|0	complex_aae	No	L1815*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

3:47084336A>T_2_ENST00000691544

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

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

Analysed issue

Analysis result

Variant

Chr3:47084336A>T (GRCh38)

Gene symbol

SETD2

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.64, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000691544.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.500T>A
g.79778T>A

AA changes

L167* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		167	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W
mutated	no alignment	n/a
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)	2.897	1
	8.627	1
(flanking)	1.288	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

3

Strand

-1

Original gDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered gDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Original cDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered cDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Wildtype AA sequence

MKQLQPQPPP KMGDFYDPEH PTPEKEAQKC FCGSANCRGY LGGENRVSIR AAGGKMKKER
SRKKDSVDGE LEALMENGEG LSDKNQVLSL SRLMVRIETL EQKLTCLELI QNTHSQSCLK
SFLERHGLSL LWIWMAELGD GRESNQKLQE EIIKTLEHLP IPTKNMLEES KVLPIIQRWS
QTKTAVPPLS EGDGYSSENT SRAHTPLNTP DPSTKLSTEA DTDTPKKLMF RRLKIISENS
MDSAISDATS ELEGKDGKED LDQLENVPVE EEEELQSQQL LPQQLPECKV DSETNIEASK
LPTSEPEADA EIEPKESNGT KLEEPINEET PSQDEEEGVS DVESERSQEQ PDKTVDISDL
ATKLLDSWKD LKEVYRIPKK SQTEKENTTT ERGRDAVGFR DQTPAPKTPN RSRERDPDKQ
TQNKEKRKRR SSLSPPSSAY ERGTKRPDDR YDTPTSKKKV RIKDRNKLST EERRKLFEQE
VAQREAQKQQ QQMQNLGMTS PLPYDSLGYN APHHPFAGYP PGYPMQAYVD PSNPNAGKVL
LPTPSMDPVC SPAPYDHAQP LVGHSTEPLS APPPVPVVPH VAAPVEVSSS QYVAQSDGVV
HQDSSVAVLP VPAPGPVQGQ NYSVWDSNQQ SVSVQQQYSP AQSQATIYYQ GQTCPTVYGV
TSPYSQTTPP IVQSYAQPSL QYIQGQQIFT AHPQGVVVQP AAAVTTIVAP GQPQPLQPSE
MVVTNNLLDL PPPSPPKPKT IVLPPNWKTA RDPEGKIYYY HVITRQTQWD PPTWESPGDD
ASLEHEAEMD LGTPTYDENP MKASKKPKTA EADTSSELAK KSKEVFRKEM SQFIVQCLNP
YRKPDCKVGR ITTTEDFKHL ARKLTHGVMN KELKYCKNPE DLECNENVKH KTKEYIKKYM
QKFGAVYKPK EDTELE*

Mutated AA sequence

MKQLQPQPPP KMGDFYDPEH PTPEKEAQKC FCGSANCRGY LGGENRVSIR AAGGKMKKER
SRKKDSVDGE LEALMENGEG LSDKNQVLSL SRLMVRIETL EQKLTCLELI QNTHSQSCLK
SFLERHGLSL LWIWMAELGD GRESNQKLQE EIIKTLEHLP IPTKNM*

Position of stopcodon in wt / mu CDS

2751 / 501

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

917 / 167

Position of stopcodon in wt / mu cDNA

2751 / 501

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

2589

Theoretical NMD boundary in CDS

2538

Length of CDS

2751

Coding sequence (CDS) position

500

cDNA position

500

gDNA position

79778

Chromosomal position

47084336

Speed

0.06 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

Back to summary table

MutationT@ster 2025

Variant:

3:47084336A>T_1_ENST00000638947

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

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

Analysed issue

Analysis result

Variant

Chr3:47084336A>T (GRCh38)

Gene symbol

SETD2

Gene constraints

LOEUF: 0.17, LOF (oe): 0.12, misssense (oe): 0.79, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000638947.2

Genbank transcript ID

NM_001349370 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5312T>A
g.79778T>A

AA changes

L1771* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		1771	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W
mutated	no alignment	n/a
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)	2.897	1
	8.627	1
(flanking)	1.288	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

3

Strand

-1

Original gDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered gDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Original cDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered cDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Wildtype AA sequence

MFKGVASSRF LPKGTKTKVN LEEQGRQKVS FSFSLTKKTL QNRFLTALGN EKQSDTPNPP
AVPLQVDSTP KMKMEIGDTL STAEESSPPK SRVELGKIHF KKHLLHVTSR PLLATTTAVA
SPPTHAAPLP AVIAESTTVD SPPSSPPPPP PPAQATTLSS PAPVTEPVAL PHTPITVLMA
APVPLPVDVA VRSLKEPPII IVPESLEADT KQDTISNSLE EHVTQILNEQ ADISSKKEDS
HIGKDEEIPD SSKISLSCKK TGSKKKSSQS EGIFLGSESD EDSVRTSSSQ RSHDLKFSAS
IEKERDFKKS SAPLKSEDLG KPSRSKTDRD DKYFSYSKLE RDTRYVSSRC RSERERRRSR
SHSRSERGSR TNLSYSRSER SHYYDSDRRY HRSSPYRERT RYSRPYTDNR ARESSDSEEE
YKKTYSRRTS SHSSSYRDLR TSSYSKSDRD CKTETSYLEM ERRGKYSSKL ERESKRTSEN
EAIKRCCSPP NELGFRRGSS YSKHDSSASR YKSTLSKPIP KSDKFKNSFC CTELNEEIKQ
SHSFSLQTPC SKGSELRMIN KNPEREKAGS PAPSNRLNDS PTLKKLDELP IFKSEFITHD
SHDSIKELDS LSKVKNDQLR SFCPIELNIN GSPGAESDLA TFCTSKTDAV LMTSDDSVTG
SELSPLVKAC MLSSNGFQNI SRCKEKDLDD TCMLHKKSES PFRETEPLVS PHQDKLMSMP
VMTVDYSKTV VKEPVDTRVS CCKTKDSDIY CTLNDSNPSL CNSEAENIEP SVMKISSNSF
MNVHLESKPV ICDSRNLTDH SKFACEEYKQ SIGSTSSASV NHFDDLYQPI GSSGIASSLQ
SLPPGIKVDS LTLLKCGENT SPVLDAVLKS KKSSEFLKHA GKETIVEVGS DLPDSGKGFA
SRENRRNNGL SGKCLQEAQE EGNSILPERR GRPEISLDER GEGGHVHTSD DSEVVFSSCD
LNLTMEDSDG VTYALKCDSS GHAPEIVSTV HEDYSGSSES SNDESDSEDT DSDDSSIPRN
RLQSVVVVPK NSTLPMEETS PCSSRSSQSY RHYSDHWEDE RLESRRHLYE EKFESIASKA
CPQTDKFFLH KGTEKNPEIS FTQSSRKQID NRLPELSHPQ SDGVDSTSHT DVKSDPLGHP
NSEETVKAKI PSRQQEELPI YSSDFEDVPN KSWQQTTFQN RPDSRLGKTE LSFSSSCEIP
HVDGLHSSEE LRNLGWDFSQ EKPSTTYQQP DSSYGACGGH KYQQNAEQYG GTRDYWQGNG
YWDPRSGRPP GTGVVYDRTQ GQVPDSLTDD REEEENWDQQ DGSHFSDQSD KFLLSLQKDK
GSVQAPEISS NSIKDTLAVN EKKDFSKNLE KNDIKDRGPL KKRRQEIESD SESDGELQDR
KKVRVEVEQG ETSVPPGSAL VGPSCVMDDF RDPQRWKECA KQGKMPCYFD LIEENVYLTE
RKKNKSHRDI KRMQCECTPL SKDERAQGEI ACGEDCLNRL LMIECSSRCP NGDYCSNRRF
QRKQHADVEV ILTEKKGWGL RAAKDLPSNT FVLEYCGEVL DHKEFKARVK EYARNKNIHY
YFMALKNDEI IDATQKGNCS RFMNHSCEPN CETQKWTVNG QLRVGFFTTK LVPSGSELTF
DYQFQRYGKE AQKCFCGSAN CRGYLGGENR VSIRAAGGKM KKERSRKKDS VDGELEALME
NGEGLSDKNQ VLSLSRLMVR IETLEQKLTC LELIQNTHSQ SCLKSFLERH GLSLLWIWMA
ELGDGRESNQ KLQEEIIKTL EHLPIPTKNM LEESKVLPII QRWSQTKTAV PPLSEGDGYS
SENTSRAHTP LNTPDPSTKL STEADTDTPK KLMFRRLKII SENSMDSAIS DATSELEGKD
GKEDLDQLEN VPVEEEEELQ SQQLLPQQLP ECKVDSETNI EASKLPTSEP EADAEIEPKE
SNGTKLEEPI NEETPSQDEE EGVSDVESER SQEQPDKTVD ISDLATKLLD SWKDLKEVYR
IPKKSQTEKE NTTTERGRDA VGFRDQTPAP KTPNRSRERD PDKQTQNKEK RKRRSSLSPP
SSAYERGTKR PDDRYDTPTS KKKVRIKDRN KLSTEERRKL FEQEVAQREA QKQQQQMQNL
GMTSPLPYDS LGYNAPHHPF AGYPPGYPMQ AYVDPSNPNA GKVLLPTPSM DPVCSPAPYD
HAQPLVGHST EPLSAPPPVP VVPHVAAPVE VSSSQYVAQS DGVVHQDSSV AVLPVPAPGP
VQGQNYSVWD SNQQSVSVQQ QYSPAQSQAT IYYQGQTCPT VYGVTSPYSQ TTPPIVQSYA
QPSLQYIQGQ QIFTAHPQGV VVQPAAAVTT IVAPGQPQPL QPSEMVVTNN LLDLPPPSPP
KPKTIVLPPN WKTARDPEGK IYYYHVITRQ TQWDPPTWES PGDDASLEHE AEMDLGTPTY
DENPMKASKK PKTAEADTSS ELAKKSKEVF RKEMSQFIVQ CLNPYRKPDC KVGRITTTED
FKHLARKLTH GVMNKELKYC KNPEDLECNE NVKHKTKEYI KKYMQKFGAV YKPKEDTELE
*

Mutated AA sequence

MFKGVASSRF LPKGTKTKVN LEEQGRQKVS FSFSLTKKTL QNRFLTALGN EKQSDTPNPP
AVPLQVDSTP KMKMEIGDTL STAEESSPPK SRVELGKIHF KKHLLHVTSR PLLATTTAVA
SPPTHAAPLP AVIAESTTVD SPPSSPPPPP PPAQATTLSS PAPVTEPVAL PHTPITVLMA
APVPLPVDVA VRSLKEPPII IVPESLEADT KQDTISNSLE EHVTQILNEQ ADISSKKEDS
HIGKDEEIPD SSKISLSCKK TGSKKKSSQS EGIFLGSESD EDSVRTSSSQ RSHDLKFSAS
IEKERDFKKS SAPLKSEDLG KPSRSKTDRD DKYFSYSKLE RDTRYVSSRC RSERERRRSR
SHSRSERGSR TNLSYSRSER SHYYDSDRRY HRSSPYRERT RYSRPYTDNR ARESSDSEEE
YKKTYSRRTS SHSSSYRDLR TSSYSKSDRD CKTETSYLEM ERRGKYSSKL ERESKRTSEN
EAIKRCCSPP NELGFRRGSS YSKHDSSASR YKSTLSKPIP KSDKFKNSFC CTELNEEIKQ
SHSFSLQTPC SKGSELRMIN KNPEREKAGS PAPSNRLNDS PTLKKLDELP IFKSEFITHD
SHDSIKELDS LSKVKNDQLR SFCPIELNIN GSPGAESDLA TFCTSKTDAV LMTSDDSVTG
SELSPLVKAC MLSSNGFQNI SRCKEKDLDD TCMLHKKSES PFRETEPLVS PHQDKLMSMP
VMTVDYSKTV VKEPVDTRVS CCKTKDSDIY CTLNDSNPSL CNSEAENIEP SVMKISSNSF
MNVHLESKPV ICDSRNLTDH SKFACEEYKQ SIGSTSSASV NHFDDLYQPI GSSGIASSLQ
SLPPGIKVDS LTLLKCGENT SPVLDAVLKS KKSSEFLKHA GKETIVEVGS DLPDSGKGFA
SRENRRNNGL SGKCLQEAQE EGNSILPERR GRPEISLDER GEGGHVHTSD DSEVVFSSCD
LNLTMEDSDG VTYALKCDSS GHAPEIVSTV HEDYSGSSES SNDESDSEDT DSDDSSIPRN
RLQSVVVVPK NSTLPMEETS PCSSRSSQSY RHYSDHWEDE RLESRRHLYE EKFESIASKA
CPQTDKFFLH KGTEKNPEIS FTQSSRKQID NRLPELSHPQ SDGVDSTSHT DVKSDPLGHP
NSEETVKAKI PSRQQEELPI YSSDFEDVPN KSWQQTTFQN RPDSRLGKTE LSFSSSCEIP
HVDGLHSSEE LRNLGWDFSQ EKPSTTYQQP DSSYGACGGH KYQQNAEQYG GTRDYWQGNG
YWDPRSGRPP GTGVVYDRTQ GQVPDSLTDD REEEENWDQQ DGSHFSDQSD KFLLSLQKDK
GSVQAPEISS NSIKDTLAVN EKKDFSKNLE KNDIKDRGPL KKRRQEIESD SESDGELQDR
KKVRVEVEQG ETSVPPGSAL VGPSCVMDDF RDPQRWKECA KQGKMPCYFD LIEENVYLTE
RKKNKSHRDI KRMQCECTPL SKDERAQGEI ACGEDCLNRL LMIECSSRCP NGDYCSNRRF
QRKQHADVEV ILTEKKGWGL RAAKDLPSNT FVLEYCGEVL DHKEFKARVK EYARNKNIHY
YFMALKNDEI IDATQKGNCS RFMNHSCEPN CETQKWTVNG QLRVGFFTTK LVPSGSELTF
DYQFQRYGKE AQKCFCGSAN CRGYLGGENR VSIRAAGGKM KKERSRKKDS VDGELEALME
NGEGLSDKNQ VLSLSRLMVR IETLEQKLTC LELIQNTHSQ SCLKSFLERH GLSLLWIWMA
ELGDGRESNQ KLQEEIIKTL EHLPIPTKNM *

Position of stopcodon in wt / mu CDS

7563 / 5313

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

2521 / 1771

Position of stopcodon in wt / mu cDNA

7637 / 5387

Position of start ATG in wt / mu cDNA

75 / 75

Last intron/exon boundary

7475

Theoretical NMD boundary in CDS

7350

Length of CDS

7563

Coding sequence (CDS) position

5312

cDNA position

5386

gDNA position

79778

Chromosomal position

47084336

Speed

0.09 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

Back to summary table

MutationT@ster 2025

Variant:

3:47084336A>T_3_ENST00000409792

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr3:47084336A>T (GRCh38)

Gene symbol

SETD2

Gene constraints

LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.79, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000409792.4

Genbank transcript ID

NM_014159 (exact from MANE)

UniProt / AlphaMissense peptide

SETD2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5444T>A
g.79778T>A

AA changes

L1815* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		1815	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	S	Q	T	K	T	A	V	P	P	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	D	P	S	T	K	L	S	T	E	A	D	T	D	T	P	K	K	L	M	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A	I	S	D	A	T	S	E	L	E	G	K	D	G	K	E	D	L	D	Q	L	E	N	V	P	V	E	E	E	E	E	L	Q	S	Q	Q	L	L	P	Q	Q	L	P	E
mutated	no alignment	n/a
Ptroglodytes	all identical	1815	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	S	Q	T	K	T	A	V	P	P	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	D	P	S	T	K	L	S	T	E	A	D	T	D	T	P	K	K	L	M	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A	I	S	D	A	T	S	E	L	E	G	K	D	G	K	E	D	L	D	Q	L	E	N	V	P	V	E	E	E
Mmulatta	all identical	1816	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	S	Q	T	K	T	A	V	P	P	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	D	P	S	T	K	L	S	T	E	A	D	T	D	T	P	K	K	L	M	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A	I	S	D	A	T	S	E	L	E	G	K	D	G	K	E	D	L	D	Q	L	E	N	V	P	V	E	E
Fcatus	all conserved	1814	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	S	Q	T	K	T	A	I	P	P	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	D	P	S	T	K	L	S	T	E	A	D	T	D	T	P	K	K	L	M	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A	I	S	D	A	T	S	E	L	E	G	K	D	G	K	E	D	L	D	Q	L	E	H	V
Mmusculus	partly conserved	1789	L	E	H	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	S	Q	T	K	T	A	V	P	Q	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	D	P	S	A	K	P	S	T	E	M	D	T	D	T	P	K	K	L	I	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A	V	S	D	V	T	S	E	L	E	C	K	D	G	K	E	D	L	D	Q	L	E	T	V	T	V	E	E	D
Ggallus	partly conserved	1892	L	E	L	L	P	I	P	T	K	N	M	L	E	E	S	K	V	L	P	I	I	Q	R	W	A	Q	T	K	S	A	I	P	Q	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	P	E	L	S	A	K	Q	S	A	E	G	D	T	D	T	P	K	K	L	V	F	R	R	L	K	I	I	S	E	N	S	M	D	S	A
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	2230	L	E	M	L	P	I	P	N	K	N	M	L	E	E	S	K	I	L	P	I	I	Q	R	W	S	Q	I	K	T	A	I	P	Q	L	S	E	G	D	G	Y	S	S	E	N	T	S	R	A	H	T	P	L	N	T	PSNPT	E	P	A	A	K	L	S	V	E	A	D	E	E	T	P	K	K	I	V	L	R	R	L	K	I	I	S	E	N	S	M	D	S	A	V	S	D	A	A	S	E	I	E	V	K	D	V	P	E	K	T	E	V	P	S	V	V	E	L	K	D

Protein features

Start (aa)	End (aa)	Feature	Details
1	2564	CHAIN		lost
1831	1867	COMPBIAS	Polar residues	lost
1831	1872	REGION		lost
1844	1844	MOD_RES	Phosphoserine	lost
1845	1845	MOD_RES	Phosphoserine	lost
1853	1853	MOD_RES	Phosphothreonine	lost
1872	1872	MOD_RES	Phosphothreonine	lost
1888	1888	MOD_RES	Phosphoserine	lost
1921	2142	REGION		lost
1924	1949	COMPBIAS	Polar residues	lost
1952	1952	MOD_RES	Phosphoserine	lost
1952	1971	COMPBIAS	Basic and acidic residues	lost
1980	1980	MOD_RES	Phosphoserine	lost
1988	1988	MOD_RES	Phosphoserine	lost
1995	1995	MOD_RES	Phosphoserine	lost
2011	2046	COMPBIAS	Basic and acidic residues	lost
2055	2080	COMPBIAS	Basic and acidic residues	lost
2080	2080	MOD_RES	Phosphoserine	lost
2082	2082	MOD_RES	Phosphoserine	lost
2090	2130	COMPBIAS	Basic and acidic residues	lost
2117	2146	COILED		lost
2137	2366	REGION		lost
2172	2175	STRAND		lost
2182	2185	TURN		lost
2377	2379	STRAND		lost
2386	2388	HELIX		lost
2389	2422	DOMAIN	WW	lost
2392	2399	STRAND		lost
2401	2403	TURN		lost
2405	2409	STRAND		lost
2410	2413	TURN		lost
2414	2419	STRAND		lost
2424	2428	STRAND		lost
2439	2465	REGION		lost
2449	2465	COMPBIAS	Basic and acidic residues	lost
2457	2564	REGION	Interaction with POLR2A	lost
2463	2486	HELIX		lost
2487	2489	TURN		lost
2495	2498	STRAND		lost
2502	2524	HELIX		lost
2527	2529	HELIX		lost
2534	2548	HELIX		lost
2549	2551	TURN		lost
2557	2559	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.897	1
	8.627	1
(flanking)	1.288	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

3

Strand

-1

Original gDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered gDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Original cDNA sequence snippet

CATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTACTTC

Altered cDNA sequence snippet

CATTCCTACTAAAAATATGTAGGAGGAAAGCAAAGTACTTC

Wildtype AA sequence

MKQLQPQPPP KMGDFYDPEH PTPEEEENEA KIENVQKTGF IKGPMFKGVA SSRFLPKGTK
TKVNLEEQGR QKVSFSFSLT KKTLQNRFLT ALGNEKQSDT PNPPAVPLQV DSTPKMKMEI
GDTLSTAEES SPPKSRVELG KIHFKKHLLH VTSRPLLATT TAVASPPTHA APLPAVIAES
TTVDSPPSSP PPPPPPAQAT TLSSPAPVTE PVALPHTPIT VLMAAPVPLP VDVAVRSLKE
PPIIIVPESL EADTKQDTIS NSLEEHVTQI LNEQADISSK KEDSHIGKDE EIPDSSKISL
SCKKTGSKKK SSQSEGIFLG SESDEDSVRT SSSQRSHDLK FSASIEKERD FKKSSAPLKS
EDLGKPSRSK TDRDDKYFSY SKLERDTRYV SSRCRSERER RRSRSHSRSE RGSRTNLSYS
RSERSHYYDS DRRYHRSSPY RERTRYSRPY TDNRARESSD SEEEYKKTYS RRTSSHSSSY
RDLRTSSYSK SDRDCKTETS YLEMERRGKY SSKLERESKR TSENEAIKRC CSPPNELGFR
RGSSYSKHDS SASRYKSTLS KPIPKSDKFK NSFCCTELNE EIKQSHSFSL QTPCSKGSEL
RMINKNPERE KAGSPAPSNR LNDSPTLKKL DELPIFKSEF ITHDSHDSIK ELDSLSKVKN
DQLRSFCPIE LNINGSPGAE SDLATFCTSK TDAVLMTSDD SVTGSELSPL VKACMLSSNG
FQNISRCKEK DLDDTCMLHK KSESPFRETE PLVSPHQDKL MSMPVMTVDY SKTVVKEPVD
TRVSCCKTKD SDIYCTLNDS NPSLCNSEAE NIEPSVMKIS SNSFMNVHLE SKPVICDSRN
LTDHSKFACE EYKQSIGSTS SASVNHFDDL YQPIGSSGIA SSLQSLPPGI KVDSLTLLKC
GENTSPVLDA VLKSKKSSEF LKHAGKETIV EVGSDLPDSG KGFASRENRR NNGLSGKCLQ
EAQEEGNSIL PERRGRPEIS LDERGEGGHV HTSDDSEVVF SSCDLNLTME DSDGVTYALK
CDSSGHAPEI VSTVHEDYSG SSESSNDESD SEDTDSDDSS IPRNRLQSVV VVPKNSTLPM
EETSPCSSRS SQSYRHYSDH WEDERLESRR HLYEEKFESI ASKACPQTDK FFLHKGTEKN
PEISFTQSSR KQIDNRLPEL SHPQSDGVDS TSHTDVKSDP LGHPNSEETV KAKIPSRQQE
ELPIYSSDFE DVPNKSWQQT TFQNRPDSRL GKTELSFSSS CEIPHVDGLH SSEELRNLGW
DFSQEKPSTT YQQPDSSYGA CGGHKYQQNA EQYGGTRDYW QGNGYWDPRS GRPPGTGVVY
DRTQGQVPDS LTDDREEEEN WDQQDGSHFS DQSDKFLLSL QKDKGSVQAP EISSNSIKDT
LAVNEKKDFS KNLEKNDIKD RGPLKKRRQE IESDSESDGE LQDRKKVRVE VEQGETSVPP
GSALVGPSCV MDDFRDPQRW KECAKQGKMP CYFDLIEENV YLTERKKNKS HRDIKRMQCE
CTPLSKDERA QGEIACGEDC LNRLLMIECS SRCPNGDYCS NRRFQRKQHA DVEVILTEKK
GWGLRAAKDL PSNTFVLEYC GEVLDHKEFK ARVKEYARNK NIHYYFMALK NDEIIDATQK
GNCSRFMNHS CEPNCETQKW TVNGQLRVGF FTTKLVPSGS ELTFDYQFQR YGKEAQKCFC
GSANCRGYLG GENRVSIRAA GGKMKKERSR KKDSVDGELE ALMENGEGLS DKNQVLSLSR
LMVRIETLEQ KLTCLELIQN THSQSCLKSF LERHGLSLLW IWMAELGDGR ESNQKLQEEI
IKTLEHLPIP TKNMLEESKV LPIIQRWSQT KTAVPPLSEG DGYSSENTSR AHTPLNTPDP
STKLSTEADT DTPKKLMFRR LKIISENSMD SAISDATSEL EGKDGKEDLD QLENVPVEEE
EELQSQQLLP QQLPECKVDS ETNIEASKLP TSEPEADAEI EPKESNGTKL EEPINEETPS
QDEEEGVSDV ESERSQEQPD KTVDISDLAT KLLDSWKDLK EVYRIPKKSQ TEKENTTTER
GRDAVGFRDQ TPAPKTPNRS RERDPDKQTQ NKEKRKRRSS LSPPSSAYER GTKRPDDRYD
TPTSKKKVRI KDRNKLSTEE RRKLFEQEVA QREAQKQQQQ MQNLGMTSPL PYDSLGYNAP
HHPFAGYPPG YPMQAYVDPS NPNAGKVLLP TPSMDPVCSP APYDHAQPLV GHSTEPLSAP
PPVPVVPHVA APVEVSSSQY VAQSDGVVHQ DSSVAVLPVP APGPVQGQNY SVWDSNQQSV
SVQQQYSPAQ SQATIYYQGQ TCPTVYGVTS PYSQTTPPIV QSYAQPSLQY IQGQQIFTAH
PQGVVVQPAA AVTTIVAPGQ PQPLQPSEMV VTNNLLDLPP PSPPKPKTIV LPPNWKTARD
PEGKIYYYHV ITRQTQWDPP TWESPGDDAS LEHEAEMDLG TPTYDENPMK ASKKPKTAEA
DTSSELAKKS KEVFRKEMSQ FIVQCLNPYR KPDCKVGRIT TTEDFKHLAR KLTHGVMNKE
LKYCKNPEDL ECNENVKHKT KEYIKKYMQK FGAVYKPKED TELE*

Mutated AA sequence

MKQLQPQPPP KMGDFYDPEH PTPEEEENEA KIENVQKTGF IKGPMFKGVA SSRFLPKGTK
TKVNLEEQGR QKVSFSFSLT KKTLQNRFLT ALGNEKQSDT PNPPAVPLQV DSTPKMKMEI
GDTLSTAEES SPPKSRVELG KIHFKKHLLH VTSRPLLATT TAVASPPTHA APLPAVIAES
TTVDSPPSSP PPPPPPAQAT TLSSPAPVTE PVALPHTPIT VLMAAPVPLP VDVAVRSLKE
PPIIIVPESL EADTKQDTIS NSLEEHVTQI LNEQADISSK KEDSHIGKDE EIPDSSKISL
SCKKTGSKKK SSQSEGIFLG SESDEDSVRT SSSQRSHDLK FSASIEKERD FKKSSAPLKS
EDLGKPSRSK TDRDDKYFSY SKLERDTRYV SSRCRSERER RRSRSHSRSE RGSRTNLSYS
RSERSHYYDS DRRYHRSSPY RERTRYSRPY TDNRARESSD SEEEYKKTYS RRTSSHSSSY
RDLRTSSYSK SDRDCKTETS YLEMERRGKY SSKLERESKR TSENEAIKRC CSPPNELGFR
RGSSYSKHDS SASRYKSTLS KPIPKSDKFK NSFCCTELNE EIKQSHSFSL QTPCSKGSEL
RMINKNPERE KAGSPAPSNR LNDSPTLKKL DELPIFKSEF ITHDSHDSIK ELDSLSKVKN
DQLRSFCPIE LNINGSPGAE SDLATFCTSK TDAVLMTSDD SVTGSELSPL VKACMLSSNG
FQNISRCKEK DLDDTCMLHK KSESPFRETE PLVSPHQDKL MSMPVMTVDY SKTVVKEPVD
TRVSCCKTKD SDIYCTLNDS NPSLCNSEAE NIEPSVMKIS SNSFMNVHLE SKPVICDSRN
LTDHSKFACE EYKQSIGSTS SASVNHFDDL YQPIGSSGIA SSLQSLPPGI KVDSLTLLKC
GENTSPVLDA VLKSKKSSEF LKHAGKETIV EVGSDLPDSG KGFASRENRR NNGLSGKCLQ
EAQEEGNSIL PERRGRPEIS LDERGEGGHV HTSDDSEVVF SSCDLNLTME DSDGVTYALK
CDSSGHAPEI VSTVHEDYSG SSESSNDESD SEDTDSDDSS IPRNRLQSVV VVPKNSTLPM
EETSPCSSRS SQSYRHYSDH WEDERLESRR HLYEEKFESI ASKACPQTDK FFLHKGTEKN
PEISFTQSSR KQIDNRLPEL SHPQSDGVDS TSHTDVKSDP LGHPNSEETV KAKIPSRQQE
ELPIYSSDFE DVPNKSWQQT TFQNRPDSRL GKTELSFSSS CEIPHVDGLH SSEELRNLGW
DFSQEKPSTT YQQPDSSYGA CGGHKYQQNA EQYGGTRDYW QGNGYWDPRS GRPPGTGVVY
DRTQGQVPDS LTDDREEEEN WDQQDGSHFS DQSDKFLLSL QKDKGSVQAP EISSNSIKDT
LAVNEKKDFS KNLEKNDIKD RGPLKKRRQE IESDSESDGE LQDRKKVRVE VEQGETSVPP
GSALVGPSCV MDDFRDPQRW KECAKQGKMP CYFDLIEENV YLTERKKNKS HRDIKRMQCE
CTPLSKDERA QGEIACGEDC LNRLLMIECS SRCPNGDYCS NRRFQRKQHA DVEVILTEKK
GWGLRAAKDL PSNTFVLEYC GEVLDHKEFK ARVKEYARNK NIHYYFMALK NDEIIDATQK
GNCSRFMNHS CEPNCETQKW TVNGQLRVGF FTTKLVPSGS ELTFDYQFQR YGKEAQKCFC
GSANCRGYLG GENRVSIRAA GGKMKKERSR KKDSVDGELE ALMENGEGLS DKNQVLSLSR
LMVRIETLEQ KLTCLELIQN THSQSCLKSF LERHGLSLLW IWMAELGDGR ESNQKLQEEI
IKTLEHLPIP TKNM*

Position of stopcodon in wt / mu CDS

7695 / 5445

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

2565 / 1815

Position of stopcodon in wt / mu cDNA

7884 / 5634

Position of start ATG in wt / mu cDNA

190 / 190

Last intron/exon boundary

7722

Theoretical NMD boundary in CDS

7482

Length of CDS

7695

Coding sequence (CDS) position

5444

cDNA position

5633

gDNA position

79778

Chromosomal position

47084336

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

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