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: ENST00000699279
Querying Taster for transcript #2: ENST00000271450
Querying Taster for transcript #3: ENST00000699278
Querying Taster for transcript #4: ENST00000699277
Querying Taster for transcript #5: ENST00000367972
MT speed 0.39 s - this script 2.810952 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000699279	FCGR2A	Benign	11\|89	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699278	FCGR2A	Benign	11\|89	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699277	FCGR2A	Benign	11\|89	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000367972	FCGR2A	Benign	35\|65	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000271450(MANE Select)	FCGR2A	Benign	36\|64	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:161509955A>C_1_ENST00000699279

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 11|89 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:161509955A>C (GRCh38)

Gene symbol

FCGR2A

Gene constraints

no data

Ensembl transcript ID

ENST00000699279.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.83A>C
g.4526A>C

AA changes

AAE:	H28P	?
Score:	77

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1801274
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		28	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	T	F	S	I	P	Q	A	N	H
mutated	not conserved	28	F	F	Q	N	G	K	S	Q	K	F	S	P	L	D	P	T	F	S	I	P	Q	A	N
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)	-4.281	0
	-0.458	0
(flanking)	-0.592	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

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered gDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Original cDNA sequence snippet

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered cDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Wildtype AA sequence

MLRCHSWKDK PLVKVTFFQN GKSQKFSHLD PTFSIPQANH SHSGDYHCTG NIGYTLFSSK
PVTITVQVPS MGSSSPMGII VAVVIATAVA AIVAAVVALI YCRKKRISAN STDPVKAAQF
EPPGRQMIAI RKRQLEETNN DYETADGGYM TLNPRAPTDD DKNIYLTLPP NDHVNSNN*

Mutated AA sequence

MLRCHSWKDK PLVKVTFFQN GKSQKFSPLD PTFSIPQANH SHSGDYHCTG NIGYTLFSSK
PVTITVQVPS MGSSSPMGII VAVVIATAVA AIVAAVVALI YCRKKRISAN STDPVKAAQF
EPPGRQMIAI RKRQLEETNN DYETADGGYM TLNPRAPTDD DKNIYLTLPP NDHVNSNN*

Position of stopcodon in wt / mu CDS

537 / 537

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

179 / 179

Position of stopcodon in wt / mu cDNA

984 / 984

Position of start ATG in wt / mu cDNA

448 / 448

Last intron/exon boundary

810

Theoretical NMD boundary in CDS

312

Length of CDS

537

Coding sequence (CDS) position

83

cDNA position

530

gDNA position

4526

Chromosomal position

161509955

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:

1:161509955A>C_3_ENST00000699278

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 11|89 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:161509955A>C (GRCh38)

Gene symbol

FCGR2A

Gene constraints

no data

Ensembl transcript ID

ENST00000699278.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.242A>C
g.4526A>C

AA changes

AAE:	H81P	?
Score:	77

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1801274
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		81	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	T	F	S	I	P	Q	A	N	H
mutated	not conserved	81	F	F	Q	N	G	K	S	Q	K	F	S	P	L	D	P	T	F	S	I	P	Q	A	N
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)	-4.281	0
	-0.458	0
(flanking)	-0.592	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

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered gDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Original cDNA sequence snippet

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered cDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Wildtype AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAEWLVL QTPHLEFQEG ETIMLRCHSW
KDKPLVKVTF FQNGKSQKFS HLDPTFSIPQ ANHSHSGDYH CTGNIGYTLF SSKPVTITVQ
VPSMGSSSPM GIIVAVVIAT AVAAIVAAVV ALIYCRKKRI SANSTDPVKA AQFEPPGRQM
IAIRKRQLEE TNNDYETADG GYMTLNPRAP TDDDKNIYLT LPPNDHVNSN N*

Mutated AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAEWLVL QTPHLEFQEG ETIMLRCHSW
KDKPLVKVTF FQNGKSQKFS PLDPTFSIPQ ANHSHSGDYH CTGNIGYTLF SSKPVTITVQ
VPSMGSSSPM GIIVAVVIAT AVAAIVAAVV ALIYCRKKRI SANSTDPVKA AQFEPPGRQM
IAIRKRQLEE TNNDYETADG GYMTLNPRAP TDDDKNIYLT LPPNDHVNSN N*

Position of stopcodon in wt / mu CDS

696 / 696

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

232 / 232

Position of stopcodon in wt / mu cDNA

707 / 707

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

533

Theoretical NMD boundary in CDS

471

Length of CDS

696

Coding sequence (CDS) position

242

cDNA position

253

gDNA position

4526

Chromosomal position

161509955

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:

1:161509955A>C_4_ENST00000699277

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 11|89 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:161509955A>C (GRCh38)

Gene symbol

FCGR2A

Gene constraints

no data

Ensembl transcript ID

ENST00000699277.1

Genbank transcript ID

NM_001375296 (by similarity), NM_001375297 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.500A>C
g.4526A>C

AA changes

AAE:	H167P	?
Score:	77

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1801274
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		167	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	T	F	S	I	P	Q	A	N	H
mutated	not conserved	167	F	F	Q	N	G	K	S	Q	K	F	S	P	L	D	P	T	F	S	I	P	Q	A	N
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)	-4.281	0
	-0.458	0
(flanking)	-0.592	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

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered gDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Original cDNA sequence snippet

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered cDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Wildtype AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAAPPK AVLKLEPPWI NVLQEDSVTL
TCQGARSPES DSIQWFHNGN LIPTHTQPSY RFKANNNDSG EYTCQTGQTS LSDPVHLTVL
SEWLVLQTPH LEFQEGETIM LRCHSWKDKP LVKVTFFQNG KSQKFSHLDP TFSIPQANHS
HSGDYHCTGN IGYTLFSSKP VTITVQANST DPVKAAQFEP PGRQMIAIRK RQLEETNNDY
ETADGGYMTL NPRAPTDDDK NIYLTLPPND HVNSNN*

Mutated AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAAPPK AVLKLEPPWI NVLQEDSVTL
TCQGARSPES DSIQWFHNGN LIPTHTQPSY RFKANNNDSG EYTCQTGQTS LSDPVHLTVL
SEWLVLQTPH LEFQEGETIM LRCHSWKDKP LVKVTFFQNG KSQKFSPLDP TFSIPQANHS
HSGDYHCTGN IGYTLFSSKP VTITVQANST DPVKAAQFEP PGRQMIAIRK RQLEETNNDY
ETADGGYMTL NPRAPTDDDK NIYLTLPPND HVNSNN*

Position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

Position of stopcodon in wt / mu cDNA

843 / 843

Position of start ATG in wt / mu cDNA

13 / 13

Last intron/exon boundary

669

Theoretical NMD boundary in CDS

606

Length of CDS

831

Coding sequence (CDS) position

500

cDNA position

512

gDNA position

4526

Chromosomal position

161509955

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:

1:161509955A>C_5_ENST00000367972

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 35|65 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:161509955A>C (GRCh38)

Gene symbol

FCGR2A

Gene constraints

LOEUF: 1.00, LOF (oe): 0.69, misssense (oe): 0.72, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000367972.8

Genbank transcript ID

NM_021642 (by similarity)

UniProt / AlphaMissense peptide

FCG2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.497A>C
g.4526A>C

AA changes

AAE:	H166P	?
Score:	77

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1801274
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		166	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	T	F	S	I	P	Q	A	N	H
mutated	not conserved	166	F	F	Q	N	G	K	S	Q	K	F	S	P	L	D	P	T	F	S	I	P	Q	A	N
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
34	217	TOPO_DOM	Extracellular	lost
34	317	CHAIN		lost
122	204	DOMAIN	Ig-like C2-type	lost
161	168	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.281	0
	-0.458	0
(flanking)	-0.592	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

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered gDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Original cDNA sequence snippet

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered cDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Wildtype AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAPPKA VLKLEPPWIN VLQEDSVTLT
CQGARSPESD SIQWFHNGNL IPTHTQPSYR FKANNNDSGE YTCQTGQTSL SDPVHLTVLS
EWLVLQTPHL EFQEGETIML RCHSWKDKPL VKVTFFQNGK SQKFSHLDPT FSIPQANHSH
SGDYHCTGNI GYTLFSSKPV TITVQVPSMG SSSPMGIIVA VVIATAVAAI VAAVVALIYC
RKKRISANST DPVKAAQFEP PGRQMIAIRK RQLEETNNDY ETADGGYMTL NPRAPTDDDK
NIYLTLPPND HVNSNN*

Mutated AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAPPKA VLKLEPPWIN VLQEDSVTLT
CQGARSPESD SIQWFHNGNL IPTHTQPSYR FKANNNDSGE YTCQTGQTSL SDPVHLTVLS
EWLVLQTPHL EFQEGETIML RCHSWKDKPL VKVTFFQNGK SQKFSPLDPT FSIPQANHSH
SGDYHCTGNI GYTLFSSKPV TITVQVPSMG SSSPMGIIVA VVIATAVAAI VAAVVALIYC
RKKRISANST DPVKAAQFEP PGRQMIAIRK RQLEETNNDY ETADGGYMTL NPRAPTDDDK
NIYLTLPPND HVNSNN*

Position of stopcodon in wt / mu CDS

951 / 951

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

317 / 317

Position of stopcodon in wt / mu cDNA

989 / 989

Position of start ATG in wt / mu cDNA

39 / 39

Last intron/exon boundary

815

Theoretical NMD boundary in CDS

726

Length of CDS

951

Coding sequence (CDS) position

497

cDNA position

535

gDNA position

4526

Chromosomal position

161509955

Speed

0.09 s

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

Back to summary table

MutationT@ster 2025

Variant:

1:161509955A>C_2_ENST00000271450

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 36|64 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:161509955A>C (GRCh38)

Gene symbol

FCGR2A

Gene constraints

LOEUF: 0.92, LOF (oe): 0.62, misssense (oe): 0.72, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000271450.12

Genbank transcript ID

NM_001136219 (exact from MANE)

UniProt / AlphaMissense peptide

FCG2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.500A>C
g.4526A>C

AA changes

AAE:	H167P	?
Score:	77

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1801274
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		167	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	T	F	S	I	P	Q	A	N	H
mutated	not conserved	167	F	F	Q	N	G	K	S	Q	K	F	S	P	L	D	P	T	F	S	I	P	Q	A	N
Ptroglodytes	all identical	167	F	F	Q	N	G	K	S	Q	K	F	S	H	L	D	P	N	F	S	I	P	Q	A	N
Mmulatta	no homologue
Fcatus	not conserved	175				N	G	K	S	K	Q	F	S	P	T	N	S	T	F	S	I	P	R	A	N
Mmusculus	all identical	172	F	F	H	N	E	K	S	V	R	Y	H	H	Y	S	S	N	F	S	I	P	K	A	N
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
34	217	TOPO_DOM	Extracellular	lost
34	317	CHAIN		lost
122	204	DOMAIN	Ig-like C2-type	lost
161	168	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.281	0
	-0.458	0
(flanking)	-0.592	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

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered gDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Original cDNA sequence snippet

AAAATCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCA

Altered cDNA sequence snippet

AAAATCCCAGAAATTCTCCCCTTTGGATCCCACCTTCTCCA

Wildtype AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAAPPK AVLKLEPPWI NVLQEDSVTL
TCQGARSPES DSIQWFHNGN LIPTHTQPSY RFKANNNDSG EYTCQTGQTS LSDPVHLTVL
SEWLVLQTPH LEFQEGETIM LRCHSWKDKP LVKVTFFQNG KSQKFSHLDP TFSIPQANHS
HSGDYHCTGN IGYTLFSSKP VTITVQVPSM GSSSPMGIIV AVVIATAVAA IVAAVVALIY
CRKKRISANS TDPVKAAQFE PPGRQMIAIR KRQLEETNND YETADGGYMT LNPRAPTDDD
KNIYLTLPPN DHVNSNN*

Mutated AA sequence

MTMETQMSQN VCPRNLWLLQ PLTVLLLLAS ADSQAAAPPK AVLKLEPPWI NVLQEDSVTL
TCQGARSPES DSIQWFHNGN LIPTHTQPSY RFKANNNDSG EYTCQTGQTS LSDPVHLTVL
SEWLVLQTPH LEFQEGETIM LRCHSWKDKP LVKVTFFQNG KSQKFSPLDP TFSIPQANHS
HSGDYHCTGN IGYTLFSSKP VTITVQVPSM GSSSPMGIIV AVVIATAVAA IVAAVVALIY
CRKKRISANS TDPVKAAQFE PPGRQMIAIR KRQLEETNND YETADGGYMT LNPRAPTDDD
KNIYLTLPPN DHVNSNN*

Position of stopcodon in wt / mu CDS

954 / 954

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

318 / 318

Position of stopcodon in wt / mu cDNA

965 / 965

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

791

Theoretical NMD boundary in CDS

729

Length of CDS

954

Coding sequence (CDS) position

500

cDNA position

511

gDNA position

4526

Chromosomal position

161509955

Speed

0.09 s

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

Back to summary table