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: ENST00000346085
Querying Taster for transcript #2: ENST00000636930
Querying Taster for transcript #3: ENST00000350026
Querying Taster for transcript #4: ENST00000414678
Querying Taster for transcript #5: ENST00000637015
MT speed 0.31 s - this script 2.776287 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000637015	ARID1B	Benign	37\|63	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000636930(MANE Select)	ARID1B	Benign	39\|61	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000414678	ARID1B	Benign	40\|60	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000346085	ARID1B	Benign	44\|56	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000350026	ARID1B	Benign	44\|56	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:156777991C>G_5_ENST00000637015

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 37|63 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:156777991C>G (GRCh38)

Gene symbol

ARID1B

Gene constraints

LOEUF: 0.14, LOF (oe): 0.09, misssense (oe): 0.76, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000637015.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.311C>G
g.1972C>G

AA changes

AAE:	S104C	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1319766536
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A	A
mutated	not conserved	104	A	A	G	T	H	S	A	K	S	G	G	C	E	A	A	L	K	E	G	G	S	A	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)	0.456	0.121
	1.49	0.28
(flanking)	0.957	0.304

?

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

6

Strand

1

Original gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Original cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Wildtype AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR PPYIRSPAYP SQSGAGGRPM FSSQHPNYGN SQAPMVHQPD QYGQGSFPGM
NQSGLMASSS PYSQPMNNSS SLMNTQAPPY SMAPAMVNSS AASVGLADMM SPGESKLPLP
LKADGKEEGT PQPESKSKDS YSSQGISQPP TPGNLPVPSP MSPSSASISS FHGDESDSIS
SPGWPKTPSS PKSSSSTTTG EKITKVYELG NEPERKLWVD RYLTFMEERG SPVSSLPAVG
KKPLDLFRLY VCVKEIGGLA QVNKNKKWRE LATNLNVGTS SSAASSLKKQ YIQYLFAFEC
KIERGEEPPP EVFSTGDTKK QPKLQPPSPA NSGSLQGPQT PQSTGSNSMA EVPGDLKPPT
PASTPHGQMT PMQGGRSSTI SVHDPFSDVS DSSFPKRNSM TPNAPYQQGM SMPDVMGRMP
YEPNKDPFGG MRKVPGSSEP FMTQGQMPNS SMQDMYNQSP SGAMSNLGMG QRQQFPYGAS
YDRRHEPYGQ QYPGQGPPSG QPPYGGHQPG LYPQQPNYKR HMDGMYGPPA KRHEGDMYNM
QYSSQQQEMY NQYGGSYSGP DRRPIQGQYP YPYSRERMQG PGQIQTHGIP PQMMGGPLQS
SSSEGPQQNM WAARNDMPYP YQNRQGPGGP TQAPPYPGMN RTDDMMVPDQ RINHESQWPS
HVSQRQPYMS SSASMQPITR PPQPSYQTPP SLPNHISRAP SPASFQRSLE NRMSPSKSPF
LPSMKMQKVM PTVPTSQVTG PPPQPPPIRR EITFPPGSVE ASQPVLKQRR KITSKDIVTP
EAWRVMMSLK SGLLAESTWA LDTINILLYD DSTVATFNLS QLSGFLELLV EYFRKCLIDI
FGILMEYEVG DPSQKALDHN AARKDDSQSL ADDSGKEEED AECIDDDEED EEDEEEDSEK
TESDEKSSIA LTAPDAAADP KEKPKQASKF DKLPIKIVKK NNLFVVDRSD KLGRVQEFNS
GLLHWQLGGG DTTEHIQTHF ESKMEIPPRR RPPPPLSSAG RKKEQEGKGD SEEQQEKSII
ATIDDVLSAR PGALPEDANP GPQTESSKFP FGIQQAKSHR NIKLLEDEPR SRDETPLCTI
AHWQDSLAKR CICVSNIVRS LSFVPGNDAE MSKHPGLVLI LGKLILLHHE HPERKRAPQT
YEKEEDEDKG VACSKDEWWW DCLEVLRDNT LVTLANISGQ LDLSAYTESI CLPILDGLLH
WMVCPSAEAQ DPFPTVGPNS VLSPQRLVLE TLCKLSIQDN NVDLILATPP FSRQEKFYAT
LVRYVGDRKN PVCREMSMAL LSNLAQGDAL AARAIAVQKG SIGNLISFLE DGVTMAQYQQ
SQHNLMHMQP PPLEPPSVDM MCRAAKALLA MARVDENRSE FLLHEGRLLD ISISAVLNSL
VASVICDVLF QIGQL*

Mutated AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGCEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR PPYIRSPAYP SQSGAGGRPM FSSQHPNYGN SQAPMVHQPD QYGQGSFPGM
NQSGLMASSS PYSQPMNNSS SLMNTQAPPY SMAPAMVNSS AASVGLADMM SPGESKLPLP
LKADGKEEGT PQPESKSKDS YSSQGISQPP TPGNLPVPSP MSPSSASISS FHGDESDSIS
SPGWPKTPSS PKSSSSTTTG EKITKVYELG NEPERKLWVD RYLTFMEERG SPVSSLPAVG
KKPLDLFRLY VCVKEIGGLA QVNKNKKWRE LATNLNVGTS SSAASSLKKQ YIQYLFAFEC
KIERGEEPPP EVFSTGDTKK QPKLQPPSPA NSGSLQGPQT PQSTGSNSMA EVPGDLKPPT
PASTPHGQMT PMQGGRSSTI SVHDPFSDVS DSSFPKRNSM TPNAPYQQGM SMPDVMGRMP
YEPNKDPFGG MRKVPGSSEP FMTQGQMPNS SMQDMYNQSP SGAMSNLGMG QRQQFPYGAS
YDRRHEPYGQ QYPGQGPPSG QPPYGGHQPG LYPQQPNYKR HMDGMYGPPA KRHEGDMYNM
QYSSQQQEMY NQYGGSYSGP DRRPIQGQYP YPYSRERMQG PGQIQTHGIP PQMMGGPLQS
SSSEGPQQNM WAARNDMPYP YQNRQGPGGP TQAPPYPGMN RTDDMMVPDQ RINHESQWPS
HVSQRQPYMS SSASMQPITR PPQPSYQTPP SLPNHISRAP SPASFQRSLE NRMSPSKSPF
LPSMKMQKVM PTVPTSQVTG PPPQPPPIRR EITFPPGSVE ASQPVLKQRR KITSKDIVTP
EAWRVMMSLK SGLLAESTWA LDTINILLYD DSTVATFNLS QLSGFLELLV EYFRKCLIDI
FGILMEYEVG DPSQKALDHN AARKDDSQSL ADDSGKEEED AECIDDDEED EEDEEEDSEK
TESDEKSSIA LTAPDAAADP KEKPKQASKF DKLPIKIVKK NNLFVVDRSD KLGRVQEFNS
GLLHWQLGGG DTTEHIQTHF ESKMEIPPRR RPPPPLSSAG RKKEQEGKGD SEEQQEKSII
ATIDDVLSAR PGALPEDANP GPQTESSKFP FGIQQAKSHR NIKLLEDEPR SRDETPLCTI
AHWQDSLAKR CICVSNIVRS LSFVPGNDAE MSKHPGLVLI LGKLILLHHE HPERKRAPQT
YEKEEDEDKG VACSKDEWWW DCLEVLRDNT LVTLANISGQ LDLSAYTESI CLPILDGLLH
WMVCPSAEAQ DPFPTVGPNS VLSPQRLVLE TLCKLSIQDN NVDLILATPP FSRQEKFYAT
LVRYVGDRKN PVCREMSMAL LSNLAQGDAL AARAIAVQKG SIGNLISFLE DGVTMAQYQQ
SQHNLMHMQP PPLEPPSVDM MCRAAKALLA MARVDENRSE FLLHEGRLLD ISISAVLNSL
VASVICDVLF QIGQL*

Position of stopcodon in wt / mu CDS

7248 / 7248

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

2416 / 2416

Position of stopcodon in wt / mu cDNA

7248 / 7248

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

5523

Theoretical NMD boundary in CDS

5472

Length of CDS

7248

Coding sequence (CDS) position

311

cDNA position

311

gDNA position

1972

Chromosomal position

156777991

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:

6:156777991C>G_2_ENST00000636930

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 39|61 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:156777991C>G (GRCh38)

Gene symbol

ARID1B

Gene constraints

LOEUF: 0.20, LOF (oe): 0.15, misssense (oe): 0.96, synonymous (oe): 1.16 ? (gnomAD)

Ensembl transcript ID

ENST00000636930.2

Genbank transcript ID

NM_001374828 (exact from MANE)

UniProt / AlphaMissense peptide

ARI1B_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.311C>G
g.1972C>G

AA changes

AAE:	S104C	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1319766536
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A	A
mutated	not conserved	104	A	A	G	T	H	S	A	K	S	G	G	C	E	A	A	L	K	E	G	G	S	A	A
Ptroglodytes	all identical	104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A
Mmulatta	all identical	101	A	AA	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A
Fcatus	all identical	21	A	A	S	T	N	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A
Mmusculus	all identical	21	A	A	S	S	N	S	A	Q	S	G	R	S	E	A	A	L	K	E	G	G	S	A	A
Ggallus	all identical	21	P	N	G	G	S	A	A	G	G	P	S	S	E	P	A	L	K	EA	G	G	G	S	A
Trubripes	not conserved	92	-	-	-	T	H	S	A	P	D	G	R	D	-	-	-	-	K	D	G	N	N	L	T
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	all conserved	92	-	-	-	-	H	H	E	V	N	L	A	T	G	T	S	L	S	S	A	N	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	2319	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.456	0.121
	1.49	0.28
(flanking)	0.957	0.304

?

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

6

Strand

1

Original gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Original cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Wildtype AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR QGSFPGMNQS GLMASSSPYS QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS
VGLADMMSPG ESKLPLPLKA DGKEEGTPQP ESKSKDSYSS QGISQPPTPG NLPVPSPMSP
SSASISSFHG DESDSISSPG WPKTPSSPKS SSSTTTGEKI TKVYELGNEP ERKLWVDRYL
TFMEERGSPV SSLPAVGKKP LDLFRLYVCV KEIGGLAQVN KNKKWRELAT NLNVGTSSSA
ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF STGDTKKQPK LQPPSPANSG SLQGPQTPQS
TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ GGRSSTISVH DPFSDVSDSS FPKRNSMTPN
APYQQGMSMP DVMGRMPYEP NKDPFGGMRK VPGSSEPFMT QGQMPNSSMQ DMYNQSPSGA
MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP GQGPPSGQPP YGGHQPGLYP QQPNYKRHMD
GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY GGSYSGPDRR PIQGQYPYPY SRERMQGPGQ
IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA RNDMPYPYQN RQGPGGPTQA PPYPGMNRTD
DMMVPDQRIN HESQWPSHVS QRQPYMSSSA SMQPITRPPQ PSYQTPPSLP NHISRAPSPA
SFQRSLENRM SPSKSPFLPS MKMQKVMPTV PTSQVTGPPP QPPPIRREIT FPPGSVEASQ
PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL LAESTWALDT INILLYDDST VATFNLSQLS
GFLELLVEYF RKCLIDIFGI LMEYEVGDPS QKALDHNAAR KDDSQSLADD SGKEEEDAEC
IDDDEEDEED EEEDSEKTES DEKSSIALTA PDAAADPKEK PKQASKFDKL PIKIVKKNNL
FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT EHIQTHFESK MEIPPRRRPP PPLSSAGRKK
EQEGKGDSEE QQEKSIIATI DDVLSARPGA LPEDANPGPQ TESSKFPFGI QQAKSHRNIK
LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC VSNIVRSLSF VPGNDAEMSK HPGLVLILGK
LILLHHEHPE RKRAPQTYEK EEDEDKGVAC SKDEWWWDCL EVLRDNTLVT LANISGQLDL
SAYTESICLP ILDGLLHWMV CPSAEAQDPF PTVGPNSVLS PQRLVLETLC KLSIQDNNVD
LILATPPFSR QEKFYATLVR YVGDRKNPVC REMSMALLSN LAQGDALAAR AIAVQKGSIG
NLISFLEDGV TMAQYQQSQH NLMHMQPPPL EPPSVDMMCR AAKALLAMAR VDENRSEFLL
HEGRLLDISI SAVLNSLVAS VICDVLFQIG QL*

Mutated AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGCEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR QGSFPGMNQS GLMASSSPYS QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS
VGLADMMSPG ESKLPLPLKA DGKEEGTPQP ESKSKDSYSS QGISQPPTPG NLPVPSPMSP
SSASISSFHG DESDSISSPG WPKTPSSPKS SSSTTTGEKI TKVYELGNEP ERKLWVDRYL
TFMEERGSPV SSLPAVGKKP LDLFRLYVCV KEIGGLAQVN KNKKWRELAT NLNVGTSSSA
ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF STGDTKKQPK LQPPSPANSG SLQGPQTPQS
TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ GGRSSTISVH DPFSDVSDSS FPKRNSMTPN
APYQQGMSMP DVMGRMPYEP NKDPFGGMRK VPGSSEPFMT QGQMPNSSMQ DMYNQSPSGA
MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP GQGPPSGQPP YGGHQPGLYP QQPNYKRHMD
GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY GGSYSGPDRR PIQGQYPYPY SRERMQGPGQ
IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA RNDMPYPYQN RQGPGGPTQA PPYPGMNRTD
DMMVPDQRIN HESQWPSHVS QRQPYMSSSA SMQPITRPPQ PSYQTPPSLP NHISRAPSPA
SFQRSLENRM SPSKSPFLPS MKMQKVMPTV PTSQVTGPPP QPPPIRREIT FPPGSVEASQ
PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL LAESTWALDT INILLYDDST VATFNLSQLS
GFLELLVEYF RKCLIDIFGI LMEYEVGDPS QKALDHNAAR KDDSQSLADD SGKEEEDAEC
IDDDEEDEED EEEDSEKTES DEKSSIALTA PDAAADPKEK PKQASKFDKL PIKIVKKNNL
FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT EHIQTHFESK MEIPPRRRPP PPLSSAGRKK
EQEGKGDSEE QQEKSIIATI DDVLSARPGA LPEDANPGPQ TESSKFPFGI QQAKSHRNIK
LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC VSNIVRSLSF VPGNDAEMSK HPGLVLILGK
LILLHHEHPE RKRAPQTYEK EEDEDKGVAC SKDEWWWDCL EVLRDNTLVT LANISGQLDL
SAYTESICLP ILDGLLHWMV CPSAEAQDPF PTVGPNSVLS PQRLVLETLC KLSIQDNNVD
LILATPPFSR QEKFYATLVR YVGDRKNPVC REMSMALLSN LAQGDALAAR AIAVQKGSIG
NLISFLEDGV TMAQYQQSQH NLMHMQPPPL EPPSVDMMCR AAKALLAMAR VDENRSEFLL
HEGRLLDISI SAVLNSLVAS VICDVLFQIG QL*

Position of stopcodon in wt / mu CDS

7119 / 7119

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

2373 / 2373

Position of stopcodon in wt / mu cDNA

7422 / 7422

Position of start ATG in wt / mu cDNA

304 / 304

Last intron/exon boundary

5697

Theoretical NMD boundary in CDS

5343

Length of CDS

7119

Coding sequence (CDS) position

311

cDNA position

614

gDNA position

1972

Chromosomal position

156777991

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:

6:156777991C>G_4_ENST00000414678

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 40|60 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:156777991C>G (GRCh38)

Gene symbol

ARID1B

Gene constraints

LOEUF: 0.17, LOF (oe): 0.11, misssense (oe): 0.78, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000414678.8

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.311C>G
g.1972C>G

AA changes

AAE:	S104C	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1319766536
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A	A
mutated	not conserved	104	A	A	G	T	H	S	A	K	S	G	G	C	E	A	A	L	K	E	G	G	S	A	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)	0.456	0.121
	1.49	0.28
(flanking)	0.957	0.304

?

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

6

Strand

1

Original gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Original cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Wildtype AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GFMAGTQRNP
QMAQYGPQQT GPSMSPHPSP GGQMHAGISS FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS
GVPSASYSGP GPGMGISANN QMHGQGPSQP CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS
PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM QAAANSAQSR QGSFPGMNQS GLMASSSPYS
QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS VGLADMMSPG ESKLPLPLKA DGKEEGTPQP
ESKSKDSYSS QGISQPPTPG NLPVPSPMSP SSASISSFHG DESDSISSPG WPKTPSSPKS
SSSTTTGEKI TKVYELGNEP ERKLWVDRYL TFMEERGSPV SSLPAVGKKP LDLFRLYVCV
KEIGGLAQVN KNKKWRELAT NLNVGTSSSA ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF
STGDTKKQPK LQPPSPANSG SLQGPQTPQS TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ
GGRSSTISVH DPFSDVSDSS FPKRNSMTPN APYQQGMSMP DVMGRMPYEP NKDPFGGMRK
VPGSSEPFMT QGQMPNSSMQ DMYNQSPSGA MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP
GQGPPSGQPP YGGHQPGLYP QQPNYKRHMD GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY
GGSYSGPDRR PIQGQYPYPY SRERMQGPGQ IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA
RNDMPYPYQN RQGPGGPTQA PPYPGMNRTD DMMVPDQRIN HESQWPSHVS QRQPYMSSSA
SMQPITRPPQ PSYQTPPSLP NHISRAPSPA SFQRSLENRM SPSKSPFLPS MKMQKVMPTV
PTSQVTGPPP QPPPIRREIT FPPGSVEASQ PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL
LAESTWALDT INILLYDDST VATFNLSQLS GFLELLVEYF RKCLIDIFGI LMEYEVGDPS
QKALDHNAAR KDDSQSLADD SGKEEEDAEC IDDDEEDEED EEEDSEKTES DEKSSIALTA
PDAAADPKEK PKQASKFDKL PIKIVKKNNL FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT
EHIQTHFESK MEIPPRRRPP PPLSSAGRKK EQEGKGDSEE QQEKSIIATI DDVLSARPGA
LPEDANPGPQ TESSKFPFGI QQAKSHRNIK LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC
VSNIVRSLSF VPGNDAEMSK HPGLVLILGK LILLHHEHPE RKRAPQTYEK EEDEDKGVAC
SKDEWWWDCL EVLRDNTLVT LANISGQLDL SAYTESICLP ILDGLLHWMV CPSAEAQDPF
PTVGPNSVLS PQRLVLETLC KLSIQDNNVD LILATPPFSR QEKFYATLVR YVGDRKNPVC
REMSMALLSN LAQGDALAAR AIAVQKGSIG NLISFLEDGV TMAQYQQSQH NLMHMQPPPL
EPPSVDMMCR AAKALLAMAR VDENRSEFLL HEGRLLDISI SAVLNSLVAS VICDVLFQIG
QL*

Mutated AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGCEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GFMAGTQRNP
QMAQYGPQQT GPSMSPHPSP GGQMHAGISS FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS
GVPSASYSGP GPGMGISANN QMHGQGPSQP CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS
PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM QAAANSAQSR QGSFPGMNQS GLMASSSPYS
QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS VGLADMMSPG ESKLPLPLKA DGKEEGTPQP
ESKSKDSYSS QGISQPPTPG NLPVPSPMSP SSASISSFHG DESDSISSPG WPKTPSSPKS
SSSTTTGEKI TKVYELGNEP ERKLWVDRYL TFMEERGSPV SSLPAVGKKP LDLFRLYVCV
KEIGGLAQVN KNKKWRELAT NLNVGTSSSA ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF
STGDTKKQPK LQPPSPANSG SLQGPQTPQS TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ
GGRSSTISVH DPFSDVSDSS FPKRNSMTPN APYQQGMSMP DVMGRMPYEP NKDPFGGMRK
VPGSSEPFMT QGQMPNSSMQ DMYNQSPSGA MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP
GQGPPSGQPP YGGHQPGLYP QQPNYKRHMD GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY
GGSYSGPDRR PIQGQYPYPY SRERMQGPGQ IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA
RNDMPYPYQN RQGPGGPTQA PPYPGMNRTD DMMVPDQRIN HESQWPSHVS QRQPYMSSSA
SMQPITRPPQ PSYQTPPSLP NHISRAPSPA SFQRSLENRM SPSKSPFLPS MKMQKVMPTV
PTSQVTGPPP QPPPIRREIT FPPGSVEASQ PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL
LAESTWALDT INILLYDDST VATFNLSQLS GFLELLVEYF RKCLIDIFGI LMEYEVGDPS
QKALDHNAAR KDDSQSLADD SGKEEEDAEC IDDDEEDEED EEEDSEKTES DEKSSIALTA
PDAAADPKEK PKQASKFDKL PIKIVKKNNL FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT
EHIQTHFESK MEIPPRRRPP PPLSSAGRKK EQEGKGDSEE QQEKSIIATI DDVLSARPGA
LPEDANPGPQ TESSKFPFGI QQAKSHRNIK LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC
VSNIVRSLSF VPGNDAEMSK HPGLVLILGK LILLHHEHPE RKRAPQTYEK EEDEDKGVAC
SKDEWWWDCL EVLRDNTLVT LANISGQLDL SAYTESICLP ILDGLLHWMV CPSAEAQDPF
PTVGPNSVLS PQRLVLETLC KLSIQDNNVD LILATPPFSR QEKFYATLVR YVGDRKNPVC
REMSMALLSN LAQGDALAAR AIAVQKGSIG NLISFLEDGV TMAQYQQSQH NLMHMQPPPL
EPPSVDMMCR AAKALLAMAR VDENRSEFLL HEGRLLDISI SAVLNSLVAS VICDVLFQIG
QL*

Position of stopcodon in wt / mu CDS

7029 / 7029

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

2343 / 2343

Position of stopcodon in wt / mu cDNA

7029 / 7029

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

5304

Theoretical NMD boundary in CDS

5253

Length of CDS

7029

Coding sequence (CDS) position

311

cDNA position

311

gDNA position

1972

Chromosomal position

156777991

Speed

0.04 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:

6:156777991C>G_1_ENST00000346085

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:156777991C>G (GRCh38)

Gene symbol

ARID1B

Gene constraints

LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.95, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000346085.10

Genbank transcript ID

NM_001371656 (by similarity), NM_001374820 (by similarity)

UniProt / AlphaMissense peptide

ARI1B_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.311C>G
g.1972C>G

AA changes

AAE:	S104C	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1319766536
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A	A
mutated	not conserved	104	A	A	G	T	H	S	A	K	S	G	G	C	E	A	A	L	K	E	G	G	S	A	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

Start (aa)	End (aa)	Feature	Details
1	2319	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.456	0.121
	1.49	0.28
(flanking)	0.957	0.304

?

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

6

Strand

1

Original gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Original cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Wildtype AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQDSGDATWK ETFWLMPPQY GQQGVSGYCQ QGQQPYYSQQ PQPPHLPPQA QYLPSQSQQR
YQPQQDMSQE GYGTRSQPPL APGKPNHEDL NLIQQERPSS LPDLSGSIDD LPTGTEATLS
SAVSASGSTS SQGDQSNPAQ SPFSPHASPH LSSIPGGPSP SPVGSPVGSN QSRSGPISPA
SIPGSQMPPQ PPGSQSESSS HPALSQSPMP QERGFMAGTQ RNPQMAQYGP QQTGPSMSPH
PSPGGQMHAG ISSFQQSNSS GTYGPQMSQY GPQGNYSRPP AYSGVPSASY SGPGPGMGIS
ANNQMHGQGP SQPCGAVPLG RMPSAGMQNR PFPGNMSSMT PSSPGMSQQG GPGMGPPMPT
VNRKAQEAAA AVMQAAANSA QSRQGSFPGM NQSGLMASSS PYSQPMNNSS SLMNTQAPPY
SMAPAMVNSS AASVGLADMM SPGESKLPLP LKADGKEEGT PQPESKSKKS SSSTTTGEKI
TKVYELGNEP ERKLWVDRYL TFMEERGSPV SSLPAVGKKP LDLFRLYVCV KEIGGLAQVN
KNKKWRELAT NLNVGTSSSA ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF STGDTKKQPK
LQPPSPANSG SLQGPQTPQS TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ GGRSSTISVH
DPFSDVSDSS FPKRNSMTPN APYQQGMSMP DVMGRMPYEP NKDPFGGMRK VPGSSEPFMT
QGQMPNSSMQ DMYNQSPSGA MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP GQGPPSGQPP
YGGHQPGLYP QQPNYKRHMD GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY GGSYSGPDRR
PIQGQYPYPY SRERMQGPGQ IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA RNDMPYPYQN
RQGPGGPTQA PPYPGMNRTD DMMVPDQRIN HESQWPSHVS QRQPYMSSSA SMQPITRPPQ
PSYQTPPSLP NHISRAPSPA SFQRSLENRM SPSKSPFLPS MKMQKVMPTV PTSQVTGPPP
QPPPIRREIT FPPGSVEASQ PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL LAESTWALDT
INILLYDDST VATFNLSQLS GFLELLVEYF RKCLIDIFGI LMEYEVGDPS QKALDHNAAR
KDDSQSLADD SGKEEEDAEC IDDDEEDEED EEEDSEKTES DEKSSIALTA PDAAADPKEK
PKQASKFDKL PIKIVKKNNL FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT EHIQTHFESK
MEIPPRRRPP PPLSSAGRKK EQEGKGDSEE QQEKSIIATI DDVLSARPGA LPEDANPGPQ
TESSKFPFGI QQAKSHRNIK LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC VSNIVRSLSF
VPGNDAEMSK HPGLVLILGK LILLHHEHPE RKRAPQTYEK EEDEDKGVAC SKDEWWWDCL
EVLRDNTLVT LANISGQLDL SAYTESICLP ILDGLLHWMV CPSAEAQDPF PTVGPNSVLS
PQRLVLETLC KLSIQDNNVD LILATPPFSR QEKFYATLVR YVGDRKNPVC REMSMALLSN
LAQGDALAAR AIAVQKGSIG NLISFLEDGV TMAQYQQSQH NLMHMQPPPL EPPSVDMMCR
AAKALLAMAR VDENRSEFLL HEGRLLDISI SAVLNSLVAS VICDVLFQIG QL*

Mutated AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGCEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQDSGDATWK ETFWLMPPQY GQQGVSGYCQ QGQQPYYSQQ PQPPHLPPQA QYLPSQSQQR
YQPQQDMSQE GYGTRSQPPL APGKPNHEDL NLIQQERPSS LPDLSGSIDD LPTGTEATLS
SAVSASGSTS SQGDQSNPAQ SPFSPHASPH LSSIPGGPSP SPVGSPVGSN QSRSGPISPA
SIPGSQMPPQ PPGSQSESSS HPALSQSPMP QERGFMAGTQ RNPQMAQYGP QQTGPSMSPH
PSPGGQMHAG ISSFQQSNSS GTYGPQMSQY GPQGNYSRPP AYSGVPSASY SGPGPGMGIS
ANNQMHGQGP SQPCGAVPLG RMPSAGMQNR PFPGNMSSMT PSSPGMSQQG GPGMGPPMPT
VNRKAQEAAA AVMQAAANSA QSRQGSFPGM NQSGLMASSS PYSQPMNNSS SLMNTQAPPY
SMAPAMVNSS AASVGLADMM SPGESKLPLP LKADGKEEGT PQPESKSKKS SSSTTTGEKI
TKVYELGNEP ERKLWVDRYL TFMEERGSPV SSLPAVGKKP LDLFRLYVCV KEIGGLAQVN
KNKKWRELAT NLNVGTSSSA ASSLKKQYIQ YLFAFECKIE RGEEPPPEVF STGDTKKQPK
LQPPSPANSG SLQGPQTPQS TGSNSMAEVP GDLKPPTPAS TPHGQMTPMQ GGRSSTISVH
DPFSDVSDSS FPKRNSMTPN APYQQGMSMP DVMGRMPYEP NKDPFGGMRK VPGSSEPFMT
QGQMPNSSMQ DMYNQSPSGA MSNLGMGQRQ QFPYGASYDR RHEPYGQQYP GQGPPSGQPP
YGGHQPGLYP QQPNYKRHMD GMYGPPAKRH EGDMYNMQYS SQQQEMYNQY GGSYSGPDRR
PIQGQYPYPY SRERMQGPGQ IQTHGIPPQM MGGPLQSSSS EGPQQNMWAA RNDMPYPYQN
RQGPGGPTQA PPYPGMNRTD DMMVPDQRIN HESQWPSHVS QRQPYMSSSA SMQPITRPPQ
PSYQTPPSLP NHISRAPSPA SFQRSLENRM SPSKSPFLPS MKMQKVMPTV PTSQVTGPPP
QPPPIRREIT FPPGSVEASQ PVLKQRRKIT SKDIVTPEAW RVMMSLKSGL LAESTWALDT
INILLYDDST VATFNLSQLS GFLELLVEYF RKCLIDIFGI LMEYEVGDPS QKALDHNAAR
KDDSQSLADD SGKEEEDAEC IDDDEEDEED EEEDSEKTES DEKSSIALTA PDAAADPKEK
PKQASKFDKL PIKIVKKNNL FVVDRSDKLG RVQEFNSGLL HWQLGGGDTT EHIQTHFESK
MEIPPRRRPP PPLSSAGRKK EQEGKGDSEE QQEKSIIATI DDVLSARPGA LPEDANPGPQ
TESSKFPFGI QQAKSHRNIK LLEDEPRSRD ETPLCTIAHW QDSLAKRCIC VSNIVRSLSF
VPGNDAEMSK HPGLVLILGK LILLHHEHPE RKRAPQTYEK EEDEDKGVAC SKDEWWWDCL
EVLRDNTLVT LANISGQLDL SAYTESICLP ILDGLLHWMV CPSAEAQDPF PTVGPNSVLS
PQRLVLETLC KLSIQDNNVD LILATPPFSR QEKFYATLVR YVGDRKNPVC REMSMALLSN
LAQGDALAAR AIAVQKGSIG NLISFLEDGV TMAQYQQSQH NLMHMQPPPL EPPSVDMMCR
AAKALLAMAR VDENRSEFLL HEGRLLDISI SAVLNSLVAS VICDVLFQIG QL*

Position of stopcodon in wt / mu CDS

6999 / 6999

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

2333 / 2333

Position of stopcodon in wt / mu cDNA

7925 / 7925

Position of start ATG in wt / mu cDNA

927 / 927

Last intron/exon boundary

6200

Theoretical NMD boundary in CDS

5223

Length of CDS

6999

Coding sequence (CDS) position

311

cDNA position

1237

gDNA position

1972

Chromosomal position

156777991

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:

6:156777991C>G_3_ENST00000350026

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:156777991C>G (GRCh38)

Gene symbol

ARID1B

Gene constraints

LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.95, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000350026.11

Genbank transcript ID

NM_017519 (by similarity)

UniProt / AlphaMissense peptide

ARI1B_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.311C>G
g.1972C>G

AA changes

AAE:	S104C	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1319766536
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		104	A	A	G	T	H	S	A	K	S	G	G	S	E	A	A	L	K	E	G	G	S	A	A	A
mutated	not conserved	104	A	A	G	T	H	S	A	K	S	G	G	C	E	A	A	L	K	E	G	G	S	A	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

Start (aa)	End (aa)	Feature	Details
1	2319	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.456	0.121
	1.49	0.28
(flanking)	0.957	0.304

?

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

6

Strand

1

Original gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered gDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Original cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGG

Altered cDNA sequence snippet

CAGCGCCAAGAGCGGCGGCTGCGAGGCGGCTCTCAAGGAGG

Wildtype AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGSEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR QGSFPGMNQS GLMASSSPYS QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS
VGLADMMSPG ESKLPLPLKA DGKEEGTPQP ESKSKKSSSS TTTGEKITKV YELGNEPERK
LWVDRYLTFM EERGSPVSSL PAVGKKPLDL FRLYVCVKEI GGLAQVNKNK KWRELATNLN
VGTSSSAASS LKKQYIQYLF AFECKIERGE EPPPEVFSTG DTKKQPKLQP PSPANSGSLQ
GPQTPQSTGS NSMAEVPGDL KPPTPASTPH GQMTPMQGGR SSTISVHDPF SDVSDSSFPK
RNSMTPNAPY QQGMSMPDVM GRMPYEPNKD PFGGMRKVPG SSEPFMTQGQ MPNSSMQDMY
NQSPSGAMSN LGMGQRQQFP YGASYDRRHE PYGQQYPGQG PPSGQPPYGG HQPGLYPQQP
NYKRHMDGMY GPPAKRHEGD MYNMQYSSQQ QEMYNQYGGS YSGPDRRPIQ GQYPYPYSRE
RMQGPGQIQT HGIPPQMMGG PLQSSSSEGP QQNMWAARND MPYPYQNRQG PGGPTQAPPY
PGMNRTDDMM VPDQRINHES QWPSHVSQRQ PYMSSSASMQ PITRPPQPSY QTPPSLPNHI
SRAPSPASFQ RSLENRMSPS KSPFLPSMKM QKVMPTVPTS QVTGPPPQPP PIRREITFPP
GSVEASQPVL KQRRKITSKD IVTPEAWRVM MSLKSGLLAE STWALDTINI LLYDDSTVAT
FNLSQLSGFL ELLVEYFRKC LIDIFGILME YEVGDPSQKA LDHNAARKDD SQSLADDSGK
EEEDAECIDD DEEDEEDEEE DSEKTESDEK SSIALTAPDA AADPKEKPKQ ASKFDKLPIK
IVKKNNLFVV DRSDKLGRVQ EFNSGLLHWQ LGGGDTTEHI QTHFESKMEI PPRRRPPPPL
SSAGRKKEQE GKGDSEEQQE KSIIATIDDV LSARPGALPE DANPGPQTES SKFPFGIQQA
KSHRNIKLLE DEPRSRDETP LCTIAHWQDS LAKRCICVSN IVRSLSFVPG NDAEMSKHPG
LVLILGKLIL LHHEHPERKR APQTYEKEED EDKGVACSKD EWWWDCLEVL RDNTLVTLAN
ISGQLDLSAY TESICLPILD GLLHWMVCPS AEAQDPFPTV GPNSVLSPQR LVLETLCKLS
IQDNNVDLIL ATPPFSRQEK FYATLVRYVG DRKNPVCREM SMALLSNLAQ GDALAARAIA
VQKGSIGNLI SFLEDGVTMA QYQQSQHNLM HMQPPPLEPP SVDMMCRAAK ALLAMARVDE
NRSEFLLHEG RLLDISISAV LNSLVASVIC DVLFQIGQL*

Mutated AA sequence

MAARAAAAAA AAAARARARA GSGERRAPPG PRPAPGARDL EAGARGAAAA AAAPGPMLGG
GGDGGGGLNS VHHHPLLPRH ELNMAHNAGA AAAAGTHSAK SGGCEAALKE GGSAAALSSS
SSSSAAAAAA SSSSSSGPGS AMETGLLPNH KLKTVGEAPA APPHQQHHHH HHAHHHHHHA
HHLHHHHALQ QQLNQFQQQQ QQQQQQQQQQ QQQQHPISNN NSLGGAGGGA PQPGPDMEQP
QHGGAKDSAA GGQADPPGPP LLSKPGDEDD APPKMGEPAG GRYEHPGLGA LGTQQPPVAV
PGGGGGPAAV PEFNNYYGSA APASGGPGGR AGPCFDQHGG QQSPGMGMMH SASAAAAGAP
GSMDPLQNSH EGYPNSQCNH YPGYSRPGAG GGGGGGGGGG GGSGGGGGGG GAGAGGAGAG
AVAAAAAAAA AAAGGGGGGG YGGSSAGYGV LSSPRQQGGG MMMGPGGGGA ASLSKAAAGS
AAGGFQRFAG QNQHPSGATP TLNQLLTSPS PMMRSYGGSY PEYSSPSAPP PPPSQPQSQA
AAAGAAAGGQ QAAAGMGLGK DMGAQYAAAS PAWAAAQQRS HPAMSPGTPG PTMGRSQGSP
MDPMVMKRPQ LYGMGSNPHS QPQQSSPYPG GSYGPPGPQR YPIGIQGRTP GAMAGMQYPQ
QQMPPQYGQQ GVSGYCQQGQ QPYYSQQPQP PHLPPQAQYL PSQSQQRYQP QQDMSQEGYG
TRSQPPLAPG KPNHEDLNLI QQERPSSLPD LSGSIDDLPT GTEATLSSAV SASGSTSSQG
DQSNPAQSPF SPHASPHLSS IPGGPSPSPV GSPVGSNQSR SGPISPASIP GSQMPPQPPG
SQSESSSHPA LSQSPMPQER GFMAGTQRNP QMAQYGPQQT GPSMSPHPSP GGQMHAGISS
FQQSNSSGTY GPQMSQYGPQ GNYSRPPAYS GVPSASYSGP GPGMGISANN QMHGQGPSQP
CGAVPLGRMP SAGMQNRPFP GNMSSMTPSS PGMSQQGGPG MGPPMPTVNR KAQEAAAAVM
QAAANSAQSR QGSFPGMNQS GLMASSSPYS QPMNNSSSLM NTQAPPYSMA PAMVNSSAAS
VGLADMMSPG ESKLPLPLKA DGKEEGTPQP ESKSKKSSSS TTTGEKITKV YELGNEPERK
LWVDRYLTFM EERGSPVSSL PAVGKKPLDL FRLYVCVKEI GGLAQVNKNK KWRELATNLN
VGTSSSAASS LKKQYIQYLF AFECKIERGE EPPPEVFSTG DTKKQPKLQP PSPANSGSLQ
GPQTPQSTGS NSMAEVPGDL KPPTPASTPH GQMTPMQGGR SSTISVHDPF SDVSDSSFPK
RNSMTPNAPY QQGMSMPDVM GRMPYEPNKD PFGGMRKVPG SSEPFMTQGQ MPNSSMQDMY
NQSPSGAMSN LGMGQRQQFP YGASYDRRHE PYGQQYPGQG PPSGQPPYGG HQPGLYPQQP
NYKRHMDGMY GPPAKRHEGD MYNMQYSSQQ QEMYNQYGGS YSGPDRRPIQ GQYPYPYSRE
RMQGPGQIQT HGIPPQMMGG PLQSSSSEGP QQNMWAARND MPYPYQNRQG PGGPTQAPPY
PGMNRTDDMM VPDQRINHES QWPSHVSQRQ PYMSSSASMQ PITRPPQPSY QTPPSLPNHI
SRAPSPASFQ RSLENRMSPS KSPFLPSMKM QKVMPTVPTS QVTGPPPQPP PIRREITFPP
GSVEASQPVL KQRRKITSKD IVTPEAWRVM MSLKSGLLAE STWALDTINI LLYDDSTVAT
FNLSQLSGFL ELLVEYFRKC LIDIFGILME YEVGDPSQKA LDHNAARKDD SQSLADDSGK
EEEDAECIDD DEEDEEDEEE DSEKTESDEK SSIALTAPDA AADPKEKPKQ ASKFDKLPIK
IVKKNNLFVV DRSDKLGRVQ EFNSGLLHWQ LGGGDTTEHI QTHFESKMEI PPRRRPPPPL
SSAGRKKEQE GKGDSEEQQE KSIIATIDDV LSARPGALPE DANPGPQTES SKFPFGIQQA
KSHRNIKLLE DEPRSRDETP LCTIAHWQDS LAKRCICVSN IVRSLSFVPG NDAEMSKHPG
LVLILGKLIL LHHEHPERKR APQTYEKEED EDKGVACSKD EWWWDCLEVL RDNTLVTLAN
ISGQLDLSAY TESICLPILD GLLHWMVCPS AEAQDPFPTV GPNSVLSPQR LVLETLCKLS
IQDNNVDLIL ATPPFSRQEK FYATLVRYVG DRKNPVCREM SMALLSNLAQ GDALAARAIA
VQKGSIGNLI SFLEDGVTMA QYQQSQHNLM HMQPPPLEPP SVDMMCRAAK ALLAMARVDE
NRSEFLLHEG RLLDISISAV LNSLVASVIC DVLFQIGQL*

Position of stopcodon in wt / mu CDS

6960 / 6960

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

2320 / 2320

Position of stopcodon in wt / mu cDNA

6960 / 6960

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

5235

Theoretical NMD boundary in CDS

5184

Length of CDS

6960

Coding sequence (CDS) position

311

cDNA position

311

gDNA position

1972

Chromosomal position

156777991

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