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: ENST00000315266
Querying Taster for transcript #2: ENST00000478722
Querying Taster for transcript #3: ENST00000459628
Querying Taster for transcript #4: ENST00000543237
MT speed 0.15 s - this script 2.585421 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000459628	GPHN	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000478722(MANE Select)	GPHN	Deleterious	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000315266	GPHN	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000543237	GPHN	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

14:66508576G>A_3_ENST00000459628

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:66508576G>A (GRCh38)

Gene symbol

GPHN

Gene constraints

LOEUF: 0.30, LOF (oe): 0.06, misssense (oe): 0.74, synonymous (oe): 1.08 ? (gnomAD)

Ensembl transcript ID

ENST00000459628.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.49G>A
g.1170G>A

AA changes

AAE:	V17I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs550187024
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	44	46

Protein conservation

Species	Match	AA	Alignment
Human		17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R	N
mutated	all conserved	17	M	I	L	T	N	H	D	H	Q	I	R	I	G	V	L	T	V	S	D	S	C	F	R
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)	-0.983	0.024
	7.072	1
(flanking)	7.148	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

16

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGGTAAC

Altered gDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGGTAAC

Original cDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGTGAGT

Altered cDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGTGAGT

Wildtype AA sequence

MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKKFP TFPFCGLQKG ATKEVIEREA PGMALAMLMG SLNVTPLGML SRPVCGIRGK
TLIINLPGSK KGSQECFQFI LPALPHAIDL LRDAIVKVKE VHDELEDLPS PPPPLSPPPT
TSPHKQTEDK GVQCEEEEEE KKDSGVASTE DSSSSHITAA AIAAKKHPFY TSPAVVMAHG
EQPIPGLINY SHHSTDERIP DSIISRGVQV LPRDTASLST TPSESPRAQA TSRLSTASCP
TPKVQSRCSS KENILRASHS AVDITKVARR HRMSPFPLTS MDKAFITVLE MTPVLGTEII
NYRGTIIFDH CPFFSSFFSK *

Mutated AA sequence

MATEGMILTN HDHQIRIGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKKFP TFPFCGLQKG ATKEVIEREA PGMALAMLMG SLNVTPLGML SRPVCGIRGK
TLIINLPGSK KGSQECFQFI LPALPHAIDL LRDAIVKVKE VHDELEDLPS PPPPLSPPPT
TSPHKQTEDK GVQCEEEEEE KKDSGVASTE DSSSSHITAA AIAAKKHPFY TSPAVVMAHG
EQPIPGLINY SHHSTDERIP DSIISRGVQV LPRDTASLST TPSESPRAQA TSRLSTASCP
TPKVQSRCSS KENILRASHS AVDITKVARR HRMSPFPLTS MDKAFITVLE MTPVLGTEII
NYRGTIIFDH CPFFSSFFSK *

Position of stopcodon in wt / mu CDS

1143 / 1143

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

381 / 381

Position of stopcodon in wt / mu cDNA

1533 / 1533

Position of start ATG in wt / mu cDNA

391 / 391

Last intron/exon boundary

1342

Theoretical NMD boundary in CDS

901

Length of CDS

1143

Coding sequence (CDS) position

49

cDNA position

439

gDNA position

1170

Chromosomal position

66508576

Speed

0.03 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:

14:66508576G>A_2_ENST00000478722

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 85|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:66508576G>A (GRCh38)

Gene symbol

GPHN

Gene constraints

LOEUF: 0.24, LOF (oe): 0.09, misssense (oe): 0.64, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000478722.6

Genbank transcript ID

NM_020806 (exact from MANE)

UniProt / AlphaMissense peptide

GEPH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.49G>A
g.1170G>A

AA changes

AAE:	V17I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs550187024
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	44	46

Protein conservation

Species	Match	AA	Alignment
Human		17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R	N
mutated	all conserved	17	M	I	L	T	N	H	D	H	Q	I	R	I	G	V	L	T	V	S	D	S	C	F	R
Ptroglodytes	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Mmulatta	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Fcatus	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Mmusculus	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Ggallus	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Trubripes	all identical	875	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R
Drerio	no homologue
Dmelanogaster	not conserved	6										I	T	F	G	V	L	T	I	S	D	T	C	W	Q
Celegans	all identical	829	L	I	L	S	S	N	G	N	F	M	R	V	C	V	I	T	V	S	D	T	C	S	A
Xtropicalis	all identical	17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R

Protein features

Start (aa)	End (aa)	Feature
1	736	CHAIN	lost
14	166	REGION	lost
16	22	STRAND	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.983	0.024
	7.072	1
(flanking)	7.148	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

16

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGGTAAC

Altered gDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGGTAAC

Original cDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGTGAGT

Altered cDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGTGAGT

Wildtype AA sequence

MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL
NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH
DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI
AAKKHPFYTS PAVVMAHGEQ PIPGLINYSH HSTDERIPDS IISRGVQVLP RDTASLSTTP
SESPRAQATS RLSTASCPTP KVQSRCSSKE NILRASHSAV DITKVARRHR MSPFPLTSMD
KAFITVLEMT PVLGTEIINY RDGMGRVLAQ DVYAKDNLPP FPASVKDGYA VRAADGPGDR
FIIGESQAGE QPTQTVMPGQ VMRVTTGAPI PCGADAVVQV EDTELIRESD DGTEELEVRI
LVQARPGQDI RPIGHDIKRG ECVLAKGTHM GPSEIGLLAT VGVTEVEVNK FPVVAVMSTG
NELLNPEDDL LPGKIRDSNR STLLATIQEH GYPTINLGIV GDNPDDLLNA LNEGISRADV
IITSGGVSMG EKDYLKQVLD IDLHAQIHFG RVFMKPGLPT TFATLDIDGV RKIIFALPGN
PVSAVVTCNL FVVPALRKMQ GILDPRPTII KARLSCDVKL DPRPEYHRCI LTWHHQEPLP
WAQSTGNQMS SRLMSMRSAN GLLMLPPKTE QYVELHKGEV VDVMVIGRL*

Mutated AA sequence

MATEGMILTN HDHQIRIGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL
NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH
DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI
AAKKHPFYTS PAVVMAHGEQ PIPGLINYSH HSTDERIPDS IISRGVQVLP RDTASLSTTP
SESPRAQATS RLSTASCPTP KVQSRCSSKE NILRASHSAV DITKVARRHR MSPFPLTSMD
KAFITVLEMT PVLGTEIINY RDGMGRVLAQ DVYAKDNLPP FPASVKDGYA VRAADGPGDR
FIIGESQAGE QPTQTVMPGQ VMRVTTGAPI PCGADAVVQV EDTELIRESD DGTEELEVRI
LVQARPGQDI RPIGHDIKRG ECVLAKGTHM GPSEIGLLAT VGVTEVEVNK FPVVAVMSTG
NELLNPEDDL LPGKIRDSNR STLLATIQEH GYPTINLGIV GDNPDDLLNA LNEGISRADV
IITSGGVSMG EKDYLKQVLD IDLHAQIHFG RVFMKPGLPT TFATLDIDGV RKIIFALPGN
PVSAVVTCNL FVVPALRKMQ GILDPRPTII KARLSCDVKL DPRPEYHRCI LTWHHQEPLP
WAQSTGNQMS SRLMSMRSAN GLLMLPPKTE QYVELHKGEV VDVMVIGRL*

Position of stopcodon in wt / mu CDS

2310 / 2310

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

770 / 770

Position of stopcodon in wt / mu cDNA

2691 / 2691

Position of start ATG in wt / mu cDNA

382 / 382

Last intron/exon boundary

2557

Theoretical NMD boundary in CDS

2125

Length of CDS

2310

Coding sequence (CDS) position

49

cDNA position

430

gDNA position

1170

Chromosomal position

66508576

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:

14:66508576G>A_1_ENST00000315266

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

Chr14:66508576G>A (GRCh38)

Gene symbol

GPHN

Gene constraints

LOEUF: 0.24, LOF (oe): 0.09, misssense (oe): 0.64, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000315266.9

Genbank transcript ID

NM_001377519 (by similarity), NM_001377515 (by similarity), NM_001377516 (by similarity), NM_001377518 (by similarity), NM_001377517 (by similarity), NM_001024218 (by similarity)

UniProt / AlphaMissense peptide

GEPH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.49G>A
g.1170G>A

AA changes

AAE:	V17I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs550187024
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	44	46

Protein conservation

Species	Match	AA	Alignment
Human		17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R	N
mutated	all conserved	17	M	I	L	T	N	H	D	H	Q	I	R	I	G	V	L	T	V	S	D	S	C	F	R
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
1	736	CHAIN	lost
14	166	REGION	lost
16	22	STRAND	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.983	0.024
	7.072	1
(flanking)	7.148	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

16

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGGTAAC

Altered gDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGGTAAC

Original cDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGTGAGT

Altered cDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGTGAGT

Wildtype AA sequence

MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL
NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH
DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI
AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL
RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY
AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG
ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS
EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP
TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF
MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR
LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV
ELHKGEVVDV MVIGRL*

Mutated AA sequence

MATEGMILTN HDHQIRIGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL
NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH
DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI
AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL
RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY
AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG
ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS
EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP
TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF
MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR
LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV
ELHKGEVVDV MVIGRL*

Position of stopcodon in wt / mu CDS

2211 / 2211

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

737 / 737

Position of stopcodon in wt / mu cDNA

3332 / 3332

Position of start ATG in wt / mu cDNA

1122 / 1122

Last intron/exon boundary

3198

Theoretical NMD boundary in CDS

2026

Length of CDS

2211

Coding sequence (CDS) position

49

cDNA position

1170

gDNA position

1170

Chromosomal position

66508576

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:

14:66508576G>A_4_ENST00000543237

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr14:66508576G>A (GRCh38)

Gene symbol

GPHN

Gene constraints

LOEUF: 0.24, LOF (oe): 0.09, misssense (oe): 0.64, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000543237.5

Genbank transcript ID

NM_001377514 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.49G>A
g.1170G>A

AA changes

AAE:	V17I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs550187024
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	44	46

Protein conservation

Species	Match	AA	Alignment
Human		17	M	I	L	T	N	H	D	H	Q	I	R	V	G	V	L	T	V	S	D	S	C	F	R	N
mutated	all conserved	17	M	I	L	T	N	H	D	H	Q	I	R	I	G	V	L	T	V	S	D	S	C	F	R
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)	-0.983	0.024
	7.072	1
(flanking)	7.148	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

16

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGGTAAC

Altered gDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGGTAAC

Original cDNA sequence snippet

ACCACGACCATCAAATCCGTGTCGGAGTCCTTACAGTGAGT

Altered cDNA sequence snippet

ACCACGACCATCAAATCCGTATCGGAGTCCTTACAGTGAGT

Wildtype AA sequence

MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEKF PTFPFCGLQK GATKEVIERE
APGMALAMLM GSLNVTPLGM LSRPVCGIRG KTLIINLPGS KKGSQECFQF ILPALPHAID
LLRDAIVKVK EVHDELEDLP SPPPPLSPPP TTSPHKQTED KGVQCEEEEE EKKDSGVAST
EDSSSSHITA AAIAAKIPDS IISRGVQVLP RDTASLSTTP SESPRAQATS RLSTASCPTP
KQIRRPDESK GVASRVGSLK ARLPSCSSTY SVSEVQSRCS SKENILRASH SAVDITKVAR
RHRMSPFPLT SMDKAFITVL EMTPVLGTEI INYRDGMGRV LAQDVYAKDN LPPFPASVKD
GYAVRAADGP GDRFIIGESQ AGEQPTQTVM PGQVMRVTTG APIPCGADAV VQVEDTELIR
ESDDGTEELE VRILVQARPG QDIRPIGHDI KRGECVLAKG THMGPSEIGL LATVGVTEVE
VNKFPVVAVM STGNELLNPE DDLLPGKIRD SNRSTLLATI QEHGYPTINL GIVGDNPDDL
LNALNEGISR ADVIITSGGV SMGEKDYLKQ VLDIDLHAQI HFGRVFMKPG LPTTFATLDI
DGVRKIIFAL PGNPVSAVVT CNLFVVPALR KMQGILDPRP TIIKARLSCD VKLDPRPEYH
RCILTWHHQE PLPWAQSTGN QMSSRLMSMR SANGLLMLPP KTEQYVELHK GEVVDVMVIG
RL*

Mutated AA sequence

MATEGMILTN HDHQIRIGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEKF PTFPFCGLQK GATKEVIERE
APGMALAMLM GSLNVTPLGM LSRPVCGIRG KTLIINLPGS KKGSQECFQF ILPALPHAID
LLRDAIVKVK EVHDELEDLP SPPPPLSPPP TTSPHKQTED KGVQCEEEEE EKKDSGVAST
EDSSSSHITA AAIAAKIPDS IISRGVQVLP RDTASLSTTP SESPRAQATS RLSTASCPTP
KQIRRPDESK GVASRVGSLK ARLPSCSSTY SVSEVQSRCS SKENILRASH SAVDITKVAR
RHRMSPFPLT SMDKAFITVL EMTPVLGTEI INYRDGMGRV LAQDVYAKDN LPPFPASVKD
GYAVRAADGP GDRFIIGESQ AGEQPTQTVM PGQVMRVTTG APIPCGADAV VQVEDTELIR
ESDDGTEELE VRILVQARPG QDIRPIGHDI KRGECVLAKG THMGPSEIGL LATVGVTEVE
VNKFPVVAVM STGNELLNPE DDLLPGKIRD SNRSTLLATI QEHGYPTINL GIVGDNPDDL
LNALNEGISR ADVIITSGGV SMGEKDYLKQ VLDIDLHAQI HFGRVFMKPG LPTTFATLDI
DGVRKIIFAL PGNPVSAVVT CNLFVVPALR KMQGILDPRP TIIKARLSCD VKLDPRPEYH
RCILTWHHQE PLPWAQSTGN QMSSRLMSMR SANGLLMLPP KTEQYVELHK GEVVDVMVIG
RL*

Position of stopcodon in wt / mu CDS

2349 / 2349

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

783 / 783

Position of stopcodon in wt / mu cDNA

2373 / 2373

Position of start ATG in wt / mu cDNA

25 / 25

Last intron/exon boundary

2239

Theoretical NMD boundary in CDS

2164

Length of CDS

2349

Coding sequence (CDS) position

49

cDNA position

73

gDNA position

1170

Chromosomal position

66508576

Speed

0.03 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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