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: ENST00000374832
Querying Taster for transcript #2: ENST00000540617
Querying Taster for transcript #3: ENST00000539907
Querying Taster for transcript #4: ENST00000374840
MT speed 0.2 s - this script 2.636989 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000374840(MANE Select)	ALPL	Deleterious	82\|18	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000374832	ALPL	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000540617	ALPL	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000539907	ALPL	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:21576564C>T_4_ENST00000374840

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:21576564C>T (GRCh38)

Gene symbol

ALPL

Gene constraints

LOEUF: 0.99, LOF (oe): 0.76, misssense (oe): 0.81, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000374840.8

Genbank transcript ID

NM_000478 (exact from MANE), NM_001369805 (by similarity), NM_001369804 (by similarity)

UniProt / AlphaMissense peptide

PPBT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1232C>T
g.67168C>T

AA changes

AAE:	T411I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		411	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G	Y	K	V
mutated	not conserved	411	P	M	L	S	D	T	D	K	K	P	F	I	A	I	L	Y	G	N	G	P	G
Ptroglodytes	all identical	411	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G
Mmulatta	all identical	411	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G
Fcatus	all identical	411	P	M	V	S	D	T	D	K	K	P	F	T	S	I	L	Y	G	N	G	P	G
Mmusculus	all identical	411	P	M	V	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G
Ggallus	all identical	410	P	M	Q	S	D	V	D	R	K	P	F	T	S	I	L	Y	G	N	G	P	G	Y	K
Trubripes	all identical	419	P	A	V	S	D	V	D	Q	K	P	F	T	A	I	L	Y	G	N	G	P	G	Y
Drerio	no homologue
Dmelanogaster	all identical	1560	S	E	L	S	N	V	D	Q	L	P	Y	T	S	I	S	Y	A	N	G	P	AYERF	Y	K
Celegans	no homologue
Xtropicalis	all identical	412	P	A	V	S	D	V	D	Q	K	P	F	T	S	I	L	Y	G	N	G	P

Protein features

Start (aa)	End (aa)	Feature	Details
18	501	CHAIN		lost
411	418	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.66	1
	7.327	1
(flanking)	-2.182	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

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered gDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Original cDNA sequence snippet

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered cDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Wildtype AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

Mutated AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF IAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

Position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

Position of stopcodon in wt / mu cDNA

1774 / 1774

Position of start ATG in wt / mu cDNA

200 / 200

Last intron/exon boundary

1508

Theoretical NMD boundary in CDS

1258

Length of CDS

1575

Coding sequence (CDS) position

1232

cDNA position

1431

gDNA position

67168

Chromosomal position

21576564

Speed

0.05 s

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

Back to summary table

MutationT@ster 2025

Variant:

1:21576564C>T_1_ENST00000374832

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:21576564C>T (GRCh38)

Gene symbol

ALPL

Gene constraints

LOEUF: 0.99, LOF (oe): 0.76, misssense (oe): 0.81, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000374832.5

Genbank transcript ID

NM_001369803 (by similarity)

UniProt / AlphaMissense peptide

PPBT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1232C>T
g.67168C>T

AA changes

AAE:	T411I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		411	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G	Y	K	V
mutated	not conserved	411	P	M	L	S	D	T	D	K	K	P	F	I	A	I	L	Y	G	N	G	P	G
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
18	501	CHAIN		lost
411	418	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.66	1
	7.327	1
(flanking)	-2.182	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

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered gDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Original cDNA sequence snippet

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered cDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Wildtype AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

Mutated AA sequence

MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF IAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*

Position of stopcodon in wt / mu CDS

1575 / 1575

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

525 / 525

Position of stopcodon in wt / mu cDNA

1829 / 1829

Position of start ATG in wt / mu cDNA

255 / 255

Last intron/exon boundary

1563

Theoretical NMD boundary in CDS

1258

Length of CDS

1575

Coding sequence (CDS) position

1232

cDNA position

1486

gDNA position

67168

Chromosomal position

21576564

Speed

0.05 s

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

Back to summary table

MutationT@ster 2025

Variant:

1:21576564C>T_2_ENST00000540617

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:21576564C>T (GRCh38)

Gene symbol

ALPL

Gene constraints

LOEUF: 0.98, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000540617.5

Genbank transcript ID

NM_001127501 (by similarity)

UniProt / AlphaMissense peptide

PPBT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1067C>T
g.67168C>T

AA changes

AAE:	T356I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		356	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G	Y	K	V
mutated	not conserved	356	P	M	L	S	D	T	D	K	K	P	F	I	A	I	L	Y
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
18	501	CHAIN		lost
345	365	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.66	1
	7.327	1
(flanking)	-2.182	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

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered gDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Original cDNA sequence snippet

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered cDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Wildtype AA sequence

MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*

Mutated AA sequence

MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFIAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*

Position of stopcodon in wt / mu CDS

1410 / 1410

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

470 / 470

Position of stopcodon in wt / mu cDNA

1604 / 1604

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

1338

Theoretical NMD boundary in CDS

1093

Length of CDS

1410

Coding sequence (CDS) position

1067

cDNA position

1261

gDNA position

67168

Chromosomal position

21576564

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:

1:21576564C>T_3_ENST00000539907

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:21576564C>T (GRCh38)

Gene symbol

ALPL

Gene constraints

LOEUF: 0.96, LOF (oe): 0.72, misssense (oe): 0.82, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000539907.5

Genbank transcript ID

NM_001177520 (by similarity)

UniProt / AlphaMissense peptide

PPBT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1001C>T
g.67168C>T

AA changes

AAE:	T334I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		334	P	M	L	S	D	T	D	K	K	P	F	T	A	I	L	Y	G	N	G	P	G	Y	K	V
mutated	not conserved	334	P	M	L	S	D	T	D	K	K	P	F	I	A	I	L	Y	G	N	G	P	G	Y	K
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
18	501	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.66	1
	7.327	1
(flanking)	-2.182	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

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered gDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Original cDNA sequence snippet

CACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATG

Altered cDNA sequence snippet

CACAGACAAGAAGCCCTTCATTGCCATCCTGTATGGCAATG

Wildtype AA sequence

MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*

Mutated AA sequence

MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFIAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*

Position of stopcodon in wt / mu CDS

1344 / 1344

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

448 / 448

Position of stopcodon in wt / mu cDNA

1490 / 1490

Position of start ATG in wt / mu cDNA

147 / 147

Last intron/exon boundary

1224

Theoretical NMD boundary in CDS

1027

Length of CDS

1344

Coding sequence (CDS) position

1001

cDNA position

1147

gDNA position

67168

Chromosomal position

21576564

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