MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000392403
Querying Taster for transcript #2: ENST00000677825
Querying Taster for transcript #3: ENST00000679333
Querying Taster for transcript #4: ENST00000677213
Querying Taster for transcript #5: ENST00000678117
Querying Taster for transcript #6: ENST00000679097
Querying Taster for transcript #7: ENST00000368346
Querying Taster for transcript #8: ENST00000679133
MT speed 0.51 s - this script 3.000818 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000392403(MANE Select)	ASH1L	Deleterious	51\|49	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000679333	ASH1L	Benign	48\|52	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000679133	ASH1L	Benign	48\|52	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000677825	ASH1L	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000677213	ASH1L	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000678117	ASH1L	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000679097	ASH1L	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000368346	ASH1L	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:155481929G>A_1_ENST00000392403

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 51|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000392403.8

Genbank transcript ID

NM_018489 (exact from MANE)

UniProt / AlphaMissense peptide

ASH1L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	P
Ptroglodytes	all identical	314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P
Mmulatta	all identical	314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	D	L	G	K	K	P
Fcatus	all identical	314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	D	L	G	R	K	P
Mmusculus	all identical	312	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	D	L	G	K	K	P
Ggallus	not conserved	318	D	S	G	K	R	LA	G	I	S	T	P	P	G	L	V	S	K	D	S	G	K	KQ	P
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	2969	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Position of stopcodon in wt / mu CDS

8895 / 8895

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

2965 / 2965

Position of stopcodon in wt / mu cDNA

9645 / 9645

Position of start ATG in wt / mu cDNA

751 / 751

Last intron/exon boundary

9553

Theoretical NMD boundary in CDS

8752

Length of CDS

8895

Coding sequence (CDS) position

941

cDNA position

1691

gDNA position

81234

Chromosomal position

155481929

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

Back to summary table

MutationT@ster 2025

Variant:

1:155481929G>A_3_ENST00000679333

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000679333.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Position of stopcodon in wt / mu CDS

8715 / 8715

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

2905 / 2905

Position of stopcodon in wt / mu cDNA

8877 / 8877

Position of start ATG in wt / mu cDNA

163 / 163

Last intron/exon boundary

8785

Theoretical NMD boundary in CDS

8572

Length of CDS

8715

Coding sequence (CDS) position

941

cDNA position

1103

gDNA position

81234

Chromosomal position

155481929

Speed

0.05 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:

1:155481929G>A_8_ENST00000679133

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000679133.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRYPSGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS
LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA
IDVTYLLEEG SGRKLRRRTL FIPENSFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRYPSGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS
LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA
IDVTYLLEEG SGRKLRRRTL FIPENSFRK*

Position of stopcodon in wt / mu CDS

8910 / 8910

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

2970 / 2970

Position of stopcodon in wt / mu cDNA

9072 / 9072

Position of start ATG in wt / mu cDNA

163 / 163

Last intron/exon boundary

8980

Theoretical NMD boundary in CDS

8767

Length of CDS

8910

Coding sequence (CDS) position

941

cDNA position

1103

gDNA position

81234

Chromosomal position

155481929

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:

1:155481929G>A_2_ENST00000677825

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000677825.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEYY
GRKSPVGRDV CRLRKAYYNA RHEASAQIDE IVGETASEAD SSETSVSEKE NGHEKDDDVI
RCICGLYKDE GLMIQCDKCM VWQHCDCMGV NSDVEHYLCE QCDPRPVDRE VPMIPRPHYA
QPGCVYFICL LRDDLLLRQG DCVYLMRDSR RTPDGHPVRQ SYRLLSHINR DKLDIFRIEK
LWKNEKEERF AFGHHYFRPH ETHHSPSRRF YHNELFRVPL YEIIPLEAVV GTCCVLDLYT
YCKGRPKGVK EQDVYICDYR LDKSAHLFYK IHRNRYPVCT KPYAFDHFPK KLTPKKDFSP
HYVPDNYKRN GGRSSWKSER SKPPLKDLGQ EDDALPLIEE VLASQEQAAN EIPSLEEPER
EGATANVSEG EKKTEESSQE PQSTCTPEER RHNQRERLNQ ILLNLLEKIP GKNAIDVTYL
LEEGSGRKLR RRTLFIPENS FRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEYY
GRKSPVGRDV CRLRKAYYNA RHEASAQIDE IVGETASEAD SSETSVSEKE NGHEKDDDVI
RCICGLYKDE GLMIQCDKCM VWQHCDCMGV NSDVEHYLCE QCDPRPVDRE VPMIPRPHYA
QPGCVYFICL LRDDLLLRQG DCVYLMRDSR RTPDGHPVRQ SYRLLSHINR DKLDIFRIEK
LWKNEKEERF AFGHHYFRPH ETHHSPSRRF YHNELFRVPL YEIIPLEAVV GTCCVLDLYT
YCKGRPKGVK EQDVYICDYR LDKSAHLFYK IHRNRYPVCT KPYAFDHFPK KLTPKKDFSP
HYVPDNYKRN GGRSSWKSER SKPPLKDLGQ EDDALPLIEE VLASQEQAAN EIPSLEEPER
EGATANVSEG EKKTEESSQE PQSTCTPEER RHNQRERLNQ ILLNLLEKIP GKNAIDVTYL
LEEGSGRKLR RRTLFIPENS FRK*

Position of stopcodon in wt / mu CDS

8892 / 8892

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

2964 / 2964

Position of stopcodon in wt / mu cDNA

8991 / 8991

Position of start ATG in wt / mu cDNA

100 / 100

Last intron/exon boundary

8899

Theoretical NMD boundary in CDS

8749

Length of CDS

8892

Coding sequence (CDS) position

941

cDNA position

1040

gDNA position

81234

Chromosomal position

155481929

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

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MutationT@ster 2025

Variant:

1:155481929G>A_4_ENST00000677213

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000677213.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ASH1L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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	2969	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Position of stopcodon in wt / mu CDS

8895 / 8895

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

2965 / 2965

Position of stopcodon in wt / mu cDNA

9084 / 9084

Position of start ATG in wt / mu cDNA

190 / 190

Last intron/exon boundary

8992

Theoretical NMD boundary in CDS

8752

Length of CDS

8895

Coding sequence (CDS) position

941

cDNA position

1130

gDNA position

81234

Chromosomal position

155481929

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:

1:155481929G>A_5_ENST00000678117

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000678117.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ASH1L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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	2969	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Position of stopcodon in wt / mu CDS

8895 / 8895

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

2965 / 2965

Position of stopcodon in wt / mu cDNA

9176 / 9176

Position of start ATG in wt / mu cDNA

282 / 282

Last intron/exon boundary

9084

Theoretical NMD boundary in CDS

8752

Length of CDS

8895

Coding sequence (CDS) position

941

cDNA position

1222

gDNA position

81234

Chromosomal position

155481929

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

Back to summary table

MutationT@ster 2025

Variant:

1:155481929G>A_6_ENST00000679097

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000679097.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ASH1L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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	2969	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ
KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT
RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL
KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC
DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG
GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP
QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG
NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ
ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY
YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV
IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY
AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE
KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY
TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS
PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE
REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY
LLEEGSGRKL RRRTLFIPEN SFRK*

Position of stopcodon in wt / mu CDS

8895 / 8895

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

2965 / 2965

Position of stopcodon in wt / mu cDNA

9157 / 9157

Position of start ATG in wt / mu cDNA

263 / 263

Last intron/exon boundary

9065

Theoretical NMD boundary in CDS

8752

Length of CDS

8895

Coding sequence (CDS) position

941

cDNA position

1203

gDNA position

81234

Chromosomal position

155481929

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

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MutationT@ster 2025

Variant:

1:155481929G>A_7_ENST00000368346

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:155481929G>A (GRCh38)

Gene symbol

ASH1L

Gene constraints

LOEUF: 0.10, LOF (oe): 0.07, misssense (oe): 0.78, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000368346.7

Genbank transcript ID

NM_001366177 (by similarity)

UniProt / AlphaMissense peptide

ASH1L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941C>T
g.81234C>T

AA changes

AAE:	A314V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778670304
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		314	D	S	V	K	K	L	G	T	G	T	T	A	V	F	I	N	K	N	L	G	K	K	P	G
mutated	not conserved	314	D	S	V	K	K	L	G	T	G	T	T	V	V	F	I	N	K	N	L	G	K	K	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	2969	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.052	0
	3.282	0.142
(flanking)	-1.645	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered gDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Original cDNA sequence snippet

ACTGGGAACTGGCACTACAGCGGTATTCATTAATAAAAACT

Altered cDNA sequence snippet

ACTGGGAACTGGCACTACAGTGGTATTCATTAATAAAAACT

Wildtype AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG
KYLRQKRIDF QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR
TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF
INHSCDPNCE MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC
RGIIGGKSQR VNGLTSSKNS QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP
TRLTPQLQMK PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK EICDGIISYK
DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI LTGYYKTVEA FDADMLKVFR
NAEKYYGRKS PVGRDVCRLR KAYYNARHEA SAQIDEIVGE TASEADSSET SVSEKENGHE
KDDDVIRCIC GLYKDEGLMI QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI
PRPHYAQPGC VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII PLEAVVGTCC
VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN RYPVCTKPYA FDHFPKKLTP
KKDFSPHYVP DNYKRNGGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS
LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA
IDVTYLLEEG SGRKLRRRTL FIPENSFRK*

Mutated AA sequence

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
NKDSVKKLGT GTTVVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG
KYLRQKRIDF QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR
TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF
INHSCDPNCE MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC
RGIIGGKSQR VNGLTSSKNS QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP
TRLTPQLQMK PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK EICDGIISYK
DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI LTGYYKTVEA FDADMLKVFR
NAEKYYGRKS PVGRDVCRLR KAYYNARHEA SAQIDEIVGE TASEADSSET SVSEKENGHE
KDDDVIRCIC GLYKDEGLMI QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI
PRPHYAQPGC VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII PLEAVVGTCC
VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN RYPVCTKPYA FDHFPKKLTP
KKDFSPHYVP DNYKRNGGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS
LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA
IDVTYLLEEG SGRKLRRRTL FIPENSFRK*

Position of stopcodon in wt / mu CDS

8910 / 8910

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

2970 / 2970

Position of stopcodon in wt / mu cDNA

9550 / 9550

Position of start ATG in wt / mu cDNA

641 / 641

Last intron/exon boundary

9458

Theoretical NMD boundary in CDS

8767

Length of CDS

8910

Coding sequence (CDS) position

941

cDNA position

1581

gDNA position

81234

Chromosomal position

155481929

Speed

0.05 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