MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000675419
Querying Taster for transcript #2: ENST00000300305
Querying Taster for transcript #3: ENST00000399240
Querying Taster for transcript #4: ENST00000358356
Querying Taster for transcript #5: ENST00000344691
MT speed 0.5 s - this script 2.913354 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000675419(MANE Select)	RUNX1	Deleterious	68\|32	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000358356	RUNX1	Deleterious	71\|29	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000344691	RUNX1	Deleterious	88\|12	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000300305	RUNX1	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000399240	RUNX1	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

21:34886989C>A_1_ENST00000675419

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 68|32 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:34886989C>A (GRCh38)

Gene symbol

RUNX1

Gene constraints

LOEUF: 0.63, LOF (oe): 0.41, misssense (oe): 0.83, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000675419.1

Genbank transcript ID

NM_001754 (exact from MANE)

UniProt / AlphaMissense peptide

RUNX1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.205G>T
g.1117679G>T

AA changes

AAE:	G69C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		69	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E	V
mutated	not conserved	69				P	D	A	G	A	A	L	A	C	K	L	R	S	G	D	R	S	M	V	E
Ptroglodytes	all identical	69				P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E
Mmulatta	all identical	69				P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E
Fcatus	all identical	82	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E
Mmusculus	not conserved	56				P	D	G	G	A	A	L	A	S	K	L	R	S	G	D	R	S	M	V	E
Ggallus	all identical	55				A	E	H	S	G	A	L	A	G	K	L	R	A	A	D	R	S	M	V	E
Trubripes	all identical	99			A	Q	E	A	G	GGG	A	L	M	G	K	L	R	M	A	D	R	S	M	M	E
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no homologue
Xtropicalis	all identical	42	L	N	V	T	D	S	S	A	A	L	V	G	K	L	R	S	T	D	R	N	M	V	E

Protein features

Start (aa)	End (aa)	Feature	Details
1	453	CHAIN		lost
50	178	DOMAIN	Runt	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.527	1
	3.653	1
(flanking)	1.862	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

21

Strand

-1

Original gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Original cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Wildtype AA sequence

MASDSIFESF PSYPQCFMRE CILGMNPSRD VHDASTSRRF TPPSTALSPG KMSEALPLGA
PDAGAALAGK LRSGDRSMVE VLADHPGELV RTDSPNFLCS VLPTHWRCNK TLPIAFKVVA
LGDVPDGTLV TVMAGNDENY SAELRNATAA MKNQVARFND LRFVGRSGRG KSFTLTITVF
TNPPQVATYH RAIKITVDGP REPRRHRQKL DDQTKPGSLS FSERLSELEQ LRRTAMRVSP
HHPAPTPNPR ASLNHSTAFN PQPQSQMQDT RQIQPSPPWS YDQSYQYLGS IASPSVHPAT
PISPGRASGM TTLSAELSSR LSTAPDLTAF SDPRQFPALP SISDPRMHYP GAFTYSPTPV
TSGIGIGMSA MGSATRYHTY LPPPYPGSSQ AQGGPFQASS PSYHLYYGAS AGSYQFSMVG
GERSPPRILP PCTNASTGSA LLNPSLPNQS DVVEAEGSHS NSPTNMAPSA RLEEAVWRPY
*

Mutated AA sequence

MASDSIFESF PSYPQCFMRE CILGMNPSRD VHDASTSRRF TPPSTALSPG KMSEALPLGA
PDAGAALACK LRSGDRSMVE VLADHPGELV RTDSPNFLCS VLPTHWRCNK TLPIAFKVVA
LGDVPDGTLV TVMAGNDENY SAELRNATAA MKNQVARFND LRFVGRSGRG KSFTLTITVF
TNPPQVATYH RAIKITVDGP REPRRHRQKL DDQTKPGSLS FSERLSELEQ LRRTAMRVSP
HHPAPTPNPR ASLNHSTAFN PQPQSQMQDT RQIQPSPPWS YDQSYQYLGS IASPSVHPAT
PISPGRASGM TTLSAELSSR LSTAPDLTAF SDPRQFPALP SISDPRMHYP GAFTYSPTPV
TSGIGIGMSA MGSATRYHTY LPPPYPGSSQ AQGGPFQASS PSYHLYYGAS AGSYQFSMVG
GERSPPRILP PCTNASTGSA LLNPSLPNQS DVVEAEGSHS NSPTNMAPSA RLEEAVWRPY
*

Position of stopcodon in wt / mu CDS

1443 / 1443

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

481 / 481

Position of stopcodon in wt / mu cDNA

1637 / 1637

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

1161

Theoretical NMD boundary in CDS

916

Length of CDS

1443

Coding sequence (CDS) position

205

cDNA position

399

gDNA position

1117679

Chromosomal position

34886989

Speed

0.10 s

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

Back to summary table

MutationT@ster 2025

Variant:

21:34886989C>A_4_ENST00000358356

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 71|29 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:34886989C>A (GRCh38)

Gene symbol

RUNX1

Gene constraints

LOEUF: 0.71, LOF (oe): 0.38, misssense (oe): 0.69, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000358356.9

Genbank transcript ID

NM_001122607 (by similarity)

UniProt / AlphaMissense peptide

RUNX1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.124G>T
g.1117679G>T

AA changes

AAE:	G42C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		42	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E	V
mutated	not conserved	42	L	G	A	P	D	A	G	A	A	L	A	C	K	L	R	S	G	D	R	S	M	V	E
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	453	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.527	1
	3.653	1
(flanking)	1.862	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

21

Strand

-1

Original gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Original cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Wildtype AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR
QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM
QEEDTAPWRC *

Mutated AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL ACKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR
QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM
QEEDTAPWRC *

Position of stopcodon in wt / mu CDS

753 / 753

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

251 / 251

Position of stopcodon in wt / mu cDNA

2331 / 2331

Position of start ATG in wt / mu cDNA

1579 / 1579

Last intron/exon boundary

2302

Theoretical NMD boundary in CDS

673

Length of CDS

753

Coding sequence (CDS) position

124

cDNA position

1702

gDNA position

1117679

Chromosomal position

34886989

Speed

0.10 s

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

Back to summary table

MutationT@ster 2025

Variant:

21:34886989C>A_5_ENST00000344691

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:34886989C>A (GRCh38)

Gene symbol

RUNX1

Gene constraints

LOEUF: 0.57, LOF (oe): 0.35, misssense (oe): 0.83, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000344691.8

Genbank transcript ID

NM_001001890 (by similarity)

UniProt / AlphaMissense peptide

RUNX1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.124G>T
g.1117679G>T

AA changes

AAE:	G42C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		42	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E	V
mutated	not conserved	42	L	G	A	P	D	A	G	A	A	L	A	C	K	L	R	S	G	D	R	S	M	V	E
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	453	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.527	1
	3.653	1
(flanking)	1.862	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

21

Strand

-1

Original gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Original cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Wildtype AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR
QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM
QDTRQIQPSP PWSYDQSYQY LGSIASPSVH PATPISPGRA SGMTTLSAEL SSRLSTAPDL
TAFSDPRQFP ALPSISDPRM HYPGAFTYSP TPVTSGIGIG MSAMGSATRY HTYLPPPYPG
SSQAQGGPFQ ASSPSYHLYY GASAGSYQFS MVGGERSPPR ILPPCTNAST GSALLNPSLP
NQSDVVEAEG SHSNSPTNMA PSARLEEAVW RPY*

Mutated AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL ACKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR
QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM
QDTRQIQPSP PWSYDQSYQY LGSIASPSVH PATPISPGRA SGMTTLSAEL SSRLSTAPDL
TAFSDPRQFP ALPSISDPRM HYPGAFTYSP TPVTSGIGIG MSAMGSATRY HTYLPPPYPG
SSQAQGGPFQ ASSPSYHLYY GASAGSYQFS MVGGERSPPR ILPPCTNAST GSALLNPSLP
NQSDVVEAEG SHSNSPTNMA PSARLEEAVW RPY*

Position of stopcodon in wt / mu CDS

1362 / 1362

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

454 / 454

Position of stopcodon in wt / mu cDNA

2940 / 2940

Position of start ATG in wt / mu cDNA

1579 / 1579

Last intron/exon boundary

2464

Theoretical NMD boundary in CDS

835

Length of CDS

1362

Coding sequence (CDS) position

124

cDNA position

1702

gDNA position

1117679

Chromosomal position

34886989

Speed

0.10 s

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

Back to summary table

MutationT@ster 2025

Variant:

21:34886989C>A_2_ENST00000300305

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:34886989C>A (GRCh38)

Gene symbol

RUNX1

Gene constraints

LOEUF: 0.63, LOF (oe): 0.41, misssense (oe): 0.83, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000300305.7

Genbank transcript ID

UniProt / AlphaMissense peptide

RUNX1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.205G>T
g.1117679G>T

AA changes

AAE:	G69C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		69	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E	V
mutated	not conserved	69				P	D	A	G	A	A	L	A	C	K	L	R	S	G	D	R	S	M	V	E
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	453	CHAIN		lost
50	178	DOMAIN	Runt	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.527	1
	3.653	1
(flanking)	1.862	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

21

Strand

-1

Original gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Original cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Wildtype AA sequence

MASDSIFESF PSYPQCFMRE CILGMNPSRD VHDASTSRRF TPPSTALSPG KMSEALPLGA
PDAGAALAGK LRSGDRSMVE VLADHPGELV RTDSPNFLCS VLPTHWRCNK TLPIAFKVVA
LGDVPDGTLV TVMAGNDENY SAELRNATAA MKNQVARFND LRFVGRSGRG KSFTLTITVF
TNPPQVATYH RAIKITVDGP REPRRHRQKL DDQTKPGSLS FSERLSELEQ LRRTAMRVSP
HHPAPTPNPR ASLNHSTAFN PQPQSQMQDT RQIQPSPPWS YDQSYQYLGS IASPSVHPAT
PISPGRASGM TTLSAELSSR LSTAPDLTAF SDPRQFPALP SISDPRMHYP GAFTYSPTPV
TSGIGIGMSA MGSATRYHTY LPPPYPGSSQ AQGGPFQASS PSYHLYYGAS AGSYQFSMVG
GERSPPRILP PCTNASTGSA LLNPSLPNQS DVVEAEGSHS NSPTNMAPSA RLEEAVWRPY
*

Mutated AA sequence

MASDSIFESF PSYPQCFMRE CILGMNPSRD VHDASTSRRF TPPSTALSPG KMSEALPLGA
PDAGAALACK LRSGDRSMVE VLADHPGELV RTDSPNFLCS VLPTHWRCNK TLPIAFKVVA
LGDVPDGTLV TVMAGNDENY SAELRNATAA MKNQVARFND LRFVGRSGRG KSFTLTITVF
TNPPQVATYH RAIKITVDGP REPRRHRQKL DDQTKPGSLS FSERLSELEQ LRRTAMRVSP
HHPAPTPNPR ASLNHSTAFN PQPQSQMQDT RQIQPSPPWS YDQSYQYLGS IASPSVHPAT
PISPGRASGM TTLSAELSSR LSTAPDLTAF SDPRQFPALP SISDPRMHYP GAFTYSPTPV
TSGIGIGMSA MGSATRYHTY LPPPYPGSSQ AQGGPFQASS PSYHLYYGAS AGSYQFSMVG
GERSPPRILP PCTNASTGSA LLNPSLPNQS DVVEAEGSHS NSPTNMAPSA RLEEAVWRPY
*

Position of stopcodon in wt / mu CDS

1443 / 1443

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

481 / 481

Position of stopcodon in wt / mu cDNA

1888 / 1888

Position of start ATG in wt / mu cDNA

446 / 446

Last intron/exon boundary

1412

Theoretical NMD boundary in CDS

916

Length of CDS

1443

Coding sequence (CDS) position

205

cDNA position

650

gDNA position

1117679

Chromosomal position

34886989

Speed

0.10 s

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

Back to summary table

MutationT@ster 2025

Variant:

21:34886989C>A_3_ENST00000399240

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr21:34886989C>A (GRCh38)

Gene symbol

RUNX1

Gene constraints

LOEUF: 0.63, LOF (oe): 0.37, misssense (oe): 0.83, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000399240.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.124G>T
g.1117679G>T

AA changes

AAE:	G42C	?
Score:	159

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		42	L	G	A	P	D	A	G	A	A	L	A	G	K	L	R	S	G	D	R	S	M	V	E	V
mutated	not conserved	42	L	G	A	P	D	A	G	A	A	L	A	C	K	L	R	S	G	D	R	S	M	V	E
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)	4.527	1
	3.653	1
(flanking)	1.862	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

21

Strand

-1

Original gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered gDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Original cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGAC

Altered cDNA sequence snippet

ACGCCGGCGCTGCCCTGGCCTGCAAGCTGAGGAGCGGCGAC

Wildtype AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRNTR
QIQPSPPWSY DQSYQYLGSI ASPSVHPATP ISPGRASGMT TLSAELSSRL STAPDLTAFS
DPRQFPALPS ISDPRMHYPG AFTYSPTPVT SGIGIGMSAM GSATRYHTYL PPPYPGSSQA
QGGPFQASSP SYHLYYGASA GSYQFSMVGG ERSPPRILPP CTNASTGSAL LNPSLPNQSD
VVEAEGSHSN SPTNMAPSAR LEEAVWRPY*

Mutated AA sequence

MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL ACKLRSGDRS MVEVLADHPG
ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA
TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRNTR
QIQPSPPWSY DQSYQYLGSI ASPSVHPATP ISPGRASGMT TLSAELSSRL STAPDLTAFS
DPRQFPALPS ISDPRMHYPG AFTYSPTPVT SGIGIGMSAM GSATRYHTYL PPPYPGSSQA
QGGPFQASSP SYHLYYGASA GSYQFSMVGG ERSPPRILPP CTNASTGSAL LNPSLPNQSD
VVEAEGSHSN SPTNMAPSAR LEEAVWRPY*

Position of stopcodon in wt / mu CDS

1170 / 1170

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

390 / 390

Position of stopcodon in wt / mu cDNA

1241 / 1241

Position of start ATG in wt / mu cDNA

72 / 72

Last intron/exon boundary

765

Theoretical NMD boundary in CDS

643

Length of CDS

1170

Coding sequence (CDS) position

124

cDNA position

195

gDNA position

1117679

Chromosomal position

34886989

Speed

0.10 s

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

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