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: ENST00000369569
Querying Taster for transcript #2: ENST00000713645
Querying Taster for transcript #3: ENST00000369567
Querying Taster for transcript #4: ENST00000432415
Querying Taster for transcript #5: ENST00000369571
Querying Taster for transcript #6: ENST00000256658
Querying Taster for transcript #7: ENST00000369564
Querying Taster for transcript #8: ENST00000713590
MT speed 3.13 s - this script 5.658988 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000713645	AP4B1	Deleterious	10\|0	complex_aae	No	E388*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000369567	AP4B1	Deleterious	10\|0	complex_aae	No	E220*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000432415	AP4B1	Deleterious	10\|0	complex_aae	No	E220*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000369564	AP4B1	Deleterious	10\|0	complex_aae	No	E313*	Single base exchange	NMD	Amino acid sequence changed NMD
ENST00000369569(MANE Select)	AP4B1	Deleterious	10\|0	complex_aae	No	E388*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected
ENST00000369571	AP4B1	Deleterious	10\|0	complex_aae	No	E388*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected
ENST00000256658	AP4B1	Deleterious	10\|0	complex_aae	No	E388*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected
ENST00000713590	AP4B1	Deleterious	10\|0	complex_aae	No	E388*	Single base exchange	NMD	Amino acid sequence changed NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

1:113898754C>A_2_ENST00000713645

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

no data

Ensembl transcript ID

ENST00000713645.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1162G>T
g.6959G>T

AA changes

E388* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
NSFISVLETV IGTIEEIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILT*

Position of stopcodon in wt / mu CDS

2220 / 1164

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

740 / 388

Position of stopcodon in wt / mu cDNA

2332 / 1276

Position of start ATG in wt / mu cDNA

113 / 113

Last intron/exon boundary

1904

Theoretical NMD boundary in CDS

1741

Length of CDS

2220

Coding sequence (CDS) position

1162

cDNA position

1274

gDNA position

6959

Chromosomal position

113898754

Speed

0.35 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:

1:113898754C>A_3_ENST00000369567

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.74, LOF (oe): 0.56, misssense (oe): 0.94, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000369567.6

Genbank transcript ID

NM_001308312 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.658G>T
g.6959G>T

AA changes

E220* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		220	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILTE LLGLRQEHIT TVVVQTFRDL
VWLCPQCTEA VCQALPGCEE NIQDSEGKQA LIWLLGVHGE RIPNAPYVLE DFVENVKSET
FPAVKMELLT ALLRLFLSRP AECQDMLGRL LYYCIEEEKD MAVRDRGLFY YRLLLVGIDE
VKRILCSPKS DPTLGLLEDP AERPVNSWAS DFNTLVPVYG KAHWATISKC QGAERCDPEL
PKTSSFAASG PLIPEENKER VQELPDSGAL MLVPNRQLTA DYFEKTWLSL KVAHQQVLPW
RGEFHPDTLQ MALQVVNIQT IAMSRAGSRP WKAYLSAQDD TGCLFLTELL LEPGNSEMQI
SVKQNEARTE TLNSFISVLE TVIGTIEEIK S*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILT*

Position of stopcodon in wt / mu CDS

1716 / 660

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

572 / 220

Position of stopcodon in wt / mu cDNA

1925 / 869

Position of start ATG in wt / mu cDNA

210 / 210

Last intron/exon boundary

1497

Theoretical NMD boundary in CDS

1237

Length of CDS

1716

Coding sequence (CDS) position

658

cDNA position

867

gDNA position

6959

Chromosomal position

113898754

Speed

0.35 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:

1:113898754C>A_4_ENST00000432415

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.89, LOF (oe): 0.47, misssense (oe): 1.05, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000432415.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.658G>T
g.6959G>T

AA changes

E220* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		220	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILTE LLGLRQEHIT TVVVQTFRDL
VWLCPQCTEA VCQALPGCEE NIQDSEGKQA LIWLLGVHGE RIPNAPYVLE DFVENVKSET
FPAVKMELLT ALLRLFLSRP AECQDMLGRL LYYCIEEEKD MAVRDRGLFY YRLLLVGIDE
VKRILCSPKS DPTLGLLEDP AERPVNSWAS DFNTLVPVYG KAHWATISKC QGAERCDPEL
PKTSSFAASG PLIPEENKER VQELPDSGAL MLVPNRQLTA DYFEKTWLSL KVAHQQVLPW
RGEFHPDTLQ MALQVVNIQT IAMSRAGSRP WKAYLSAQDD TGCLFLTELL LEPGNSEMQI
SVKQNEARTE TLNSFISVLE TVIGTIEEIK S*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILT*

Position of stopcodon in wt / mu CDS

1716 / 660

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

572 / 220

Position of stopcodon in wt / mu cDNA

1871 / 815

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

1443

Theoretical NMD boundary in CDS

1237

Length of CDS

1716

Coding sequence (CDS) position

658

cDNA position

813

gDNA position

6959

Chromosomal position

113898754

Speed

0.38 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:

1:113898754C>A_7_ENST00000369564

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.82, LOF (oe): 0.54, misssense (oe): 0.99, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000369564.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.937G>T
g.6959G>T

AA changes

E313* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		313	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMP GVQEYIQQPI LNGLRDKASY
VRRVAVLGCA KMHNLHGDSE VDGALVNELY SLLRDQDPIV VVNCLRSLEE ILKQEGGVVI
NKPIAHHLLN RMSKLDQWGQ AEVLNFLLRY QPRSEEELFD ILNLLDSFLK SSSPGVVMGA
TKLFLILAKM FPHVQTDVLV RVKGPLLAAC SSESRELCFV ALCHVRQILH SLPGHFSSHY
KKFFCSYSEP HYIKLQKVEV LCELVNDENV QQVLEELRGY CTDVSADFAQ AAIFAIGGIA
RTYTDQCVQI LTELLGLRQE HITTVVVQTF RDLVWLCPQC TEAVCQALPG CEENIQDSEG
KQALIWLLGV HGERIPNAPY VLEDFVENVK SETFPAVKME LLTALLRLFL SRPAECQDML
GRLLYYCIEE EKDMAVRDRG LFYYRLLLVG IDEVKRILCS PKSDPTLGLL EDPAERPVNS
WASDFNTLVP VYGKAHWATI SKCQGAERCD PELPKTSSFA ASGPLIPEEN KERVQELPDS
GALMLVPNRQ LTADYFEKTW LSLKVAHQQV LPWRGEFHPD TLQMALQVVN IQTIAMSRAG
SRPWKAYLSA QDDTGCLFLT ELLLEPGNSE MQISVKQNEA RTETLNSFIS VLETVIGTIE
EIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMP GVQEYIQQPI LNGLRDKASY
VRRVAVLGCA KMHNLHGDSE VDGALVNELY SLLRDQDPIV VVNCLRSLEE ILKQEGGVVI
NKPIAHHLLN RMSKLDQWGQ AEVLNFLLRY QPRSEEELFD ILNLLDSFLK SSSPGVVMGA
TKLFLILAKM FPHVQTDVLV RVKGPLLAAC SSESRELCFV ALCHVRQILH SLPGHFSSHY
KKFFCSYSEP HYIKLQKVEV LCELVNDENV QQVLEELRGY CTDVSADFAQ AAIFAIGGIA
RTYTDQCVQI LT*

Position of stopcodon in wt / mu CDS

1995 / 939

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

665 / 313

Position of stopcodon in wt / mu cDNA

2331 / 1275

Position of start ATG in wt / mu cDNA

337 / 337

Last intron/exon boundary

1903

Theoretical NMD boundary in CDS

1516

Length of CDS

1995

Coding sequence (CDS) position

937

cDNA position

1273

gDNA position

6959

Chromosomal position

113898754

Speed

0.39 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:

1:113898754C>A_1_ENST00000369569

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.78, LOF (oe): 0.61, misssense (oe): 0.96, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000369569.6

Genbank transcript ID

NM_001253852 (exact from MANE)

UniProt / AlphaMissense peptide

AP4B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1162G>T
g.6959G>T

AA changes

E388* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V	V	V	Q	T	F	R	D	L	V	W	L	C	P	Q	C	T	E	A	V	C	Q	A	L	P	G	C	E	E	N	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	V	H	G	E	R	I	P	N	A	P	Y	V	L	E	D	F	V	E	N	V	K	S	E	T	F	P	A	V	K	M	E	L	L	T	A	L	L	R	L	F	L	S	R	P	A	E	C	Q	D
mutated	no alignment	n/a
Ptroglodytes	all identical	388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V	V	V	Q	T	F	R	D	L	V	W	L	C	P	Q	C	T	E	A	V	C	Q	A	L	P	G	C	E	E	N	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	V	H	G	E	R	I	P	N	A	P	Y	V	L	E	D	F	V	E	N	V	K	S	E	T	F	P	A	V	K	M	E	L	L	T	A	L
Mmulatta	all identical	414	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V	V	V	Q	T	F	R	D	L	V	W	L	C	P	Q	C	T	E	A	V	C	Q	A	L	P	G	C	E	E	N	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	V	H	G	E	R	I	P	N	A	P	Y	V	L	E	D	F	V	E	N	V	K	S	E	T	F	P	A	V	K	M	E	L	L	T	A	L
Fcatus	partly conserved	388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V	V	V	Q	T	F	R	D	L	V	W	L	C	P	Q	C	T	E	A	V	C	Q	A	L	P	G	C	E	E	N	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	V	H	G	E	R	I	P	N	A	P	Y	V	L	E	D	F	V	E	N	V	K	S	E	T	F	P	A	V	T	M	E	L	L	T	A	L
Mmusculus	all conserved	388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V	V	V	Q	T	F	R	D	L	V	W	L	C	P	Q	C	T	E	A	V	C	Q	A	L	P	G	C	E	E	N	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	V	H	G	E	K	I	P	N	A	P	Y	V	L	E	D	F	V	D	N	V	K	S	E	T	F	P	A	V	K	M	E	L	L	T	A	L
Ggallus	partly conserved	388	T	Y	T	E	Q	C	V	G	I	L	T	E	L	L	G	L	Q	Q	E	H	I	T	S	A	V	V	Q	A	F	R	D	L	V	W	L	C	P	Q	C	T	D	A	V	C	Q	A	L	P	G	C	E	D	I	I	Q	D	S	E	G	K	Q	A	L	I	W	L	L	G	A	H	G	E	K	V	P	N	A	P	Y	V	L	E	D	F	V	E	N	V	K	T	E	V	F	P	A	V	K	M	E	L	L	T	A	L
Trubripes	partly conserved	349	S	Y	S	D	R	C	L	E	I	L	T	G	L	L	V	L	K	Q	E	H	I	T	S	A	V	V	Q	T	M	R	D	L	V	W	V	C	P	Q	N	S	H	T	V	C	L	A	L	E	A	C	E	E	T	L	Q	D	S	Q	G	R	Q	A	L	L	W	L	L	G	M	Y	G	E	Q	V	A	G	A	P	Y	T	L	E	V
Drerio	no homologue
Dmelanogaster	partly conserved	481	E	V	T	E	T	C	L	S	G	L	V	H	L	L	S	N	H	D	E	H	V	V	A	E	S	V	V	V	I	K	R	L	L	Q	T	K	A	A	E	H	F	E	I	I	T	Q	M	A	K	L	I	D	Y	I	N	V	P	A	A	R	A	A	I	I	W	L	I	G	E	Y	N	E	K	V	P	L	I	A	P	D	V	L	R	K	M	A	K	S	F	V	D	E	Q	-	D	V	V	K	L	Q	V	L	N	L
Celegans	no homologue
Xtropicalis	partly conserved	388	T	F	S	E	K	C	V	K	I	L	S	Q	L	L	E	F	N	Q	E	H	I	T	S	A	V	I	Q	T	F	R	D	L	V	W	L	C	P	Q	C	I	A	K	V	C	L	A	L	P	G	C	E	E	I	I	Q	D	N	E	G	K	R	A	L	I	W	L	L	G	M	H	G	D	V	I	S	N	A	P	Y	I	L	E	D	F	V	D	N	I	K	T	E	I	S	P	T	V	K	I	E	L	L	T	A	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	739	CHAIN		lost
534	600	REGION		lost
601	739	REGION	Ear; mediates interaction with TEPSIN	lost
628	637	HELIX		lost
641	647	STRAND		lost
654	663	HELIX		lost
667	671	STRAND		lost
677	687	STRAND		lost
692	699	STRAND		lost
701	703	STRAND		lost
705	714	STRAND		lost
717	735	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
NSFISVLETV IGTIEEIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILT*

Position of stopcodon in wt / mu CDS

2220 / 1164

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

740 / 388

Position of stopcodon in wt / mu cDNA

2302 / 1246

Position of start ATG in wt / mu cDNA

83 / 83

Last intron/exon boundary

1874

Theoretical NMD boundary in CDS

1741

Length of CDS

2220

Coding sequence (CDS) position

1162

cDNA position

1244

gDNA position

6959

Chromosomal position

113898754

Speed

0.49 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:

1:113898754C>A_5_ENST00000369571

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.98, LOF (oe): 0.67, misssense (oe): 1.01, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000369571.3

Genbank transcript ID

NM_001253853 (by similarity), NM_006594 (by similarity)

UniProt / AlphaMissense peptide

AP4B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1162G>T
g.6959G>T

AA changes

E388* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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	739	CHAIN		lost
534	600	REGION		lost
601	739	REGION	Ear; mediates interaction with TEPSIN	lost
628	637	HELIX		lost
641	647	STRAND		lost
654	663	HELIX		lost
667	671	STRAND		lost
677	687	STRAND		lost
692	699	STRAND		lost
701	703	STRAND		lost
705	714	STRAND		lost
717	735	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
NSFISVLETV IGTIEEIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILT*

Position of stopcodon in wt / mu CDS

2220 / 1164

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

740 / 388

Position of stopcodon in wt / mu cDNA

2413 / 1357

Position of start ATG in wt / mu cDNA

194 / 194

Last intron/exon boundary

1985

Theoretical NMD boundary in CDS

1741

Length of CDS

2220

Coding sequence (CDS) position

1162

cDNA position

1355

gDNA position

6959

Chromosomal position

113898754

Speed

0.28 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:

1:113898754C>A_6_ENST00000256658

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

LOEUF: 0.78, LOF (oe): 0.61, misssense (oe): 0.96, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000256658.8

Genbank transcript ID

UniProt / AlphaMissense peptide

AP4B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1162G>T
g.6959G>T

AA changes

E388* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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	739	CHAIN		lost
534	600	REGION		lost
601	739	REGION	Ear; mediates interaction with TEPSIN	lost
628	637	HELIX		lost
641	647	STRAND		lost
654	663	HELIX		lost
667	671	STRAND		lost
677	687	STRAND		lost
692	699	STRAND		lost
701	703	STRAND		lost
705	714	STRAND		lost
717	735	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
NSFISVLETV IGTIEEIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILT*

Position of stopcodon in wt / mu CDS

2220 / 1164

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

740 / 388

Position of stopcodon in wt / mu cDNA

2425 / 1369

Position of start ATG in wt / mu cDNA

206 / 206

Last intron/exon boundary

1997

Theoretical NMD boundary in CDS

1741

Length of CDS

2220

Coding sequence (CDS) position

1162

cDNA position

1367

gDNA position

6959

Chromosomal position

113898754

Speed

0.39 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:

1:113898754C>A_8_ENST00000713590

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr1:113898754C>A (GRCh38)

Gene symbol

AP4B1

Gene constraints

no data

Ensembl transcript ID

ENST00000713590.1

Genbank transcript ID

UniProt / AlphaMissense peptide

AP4B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1162G>T
g.6959G>T

AA changes

E388* Score: 6.0?

Frameshift

No

Length of protein

NMD

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		388	T	Y	T	D	Q	C	V	Q	I	L	T	E	L	L	G	L	R	Q	E	H	I	T	T	V
mutated	no alignment	n/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	739	CHAIN		lost
534	600	REGION		lost
601	739	REGION	Ear; mediates interaction with TEPSIN	lost
628	637	HELIX		lost
641	647	STRAND		lost
654	663	HELIX		lost
667	671	STRAND		lost
677	687	STRAND		lost
692	699	STRAND		lost
701	703	STRAND		lost
705	714	STRAND		lost
717	735	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.84	1
	4.935	1
(flanking)	0.221	0.997

?

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

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered gDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Original cDNA sequence snippet

AATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAA

Altered cDNA sequence snippet

AATGTGTTCAGATTTTAACATAGTTGCTGGGTCTTCGACAA

Wildtype AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
NSFISVLETV IGTIEEIKS*

Mutated AA sequence

MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
ADFAQAAIFA IGGIARTYTD QCVQILT*

Position of stopcodon in wt / mu CDS

2220 / 1164

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

740 / 388

Position of stopcodon in wt / mu cDNA

2426 / 1370

Position of start ATG in wt / mu cDNA

207 / 207

Last intron/exon boundary

1998

Theoretical NMD boundary in CDS

1741

Length of CDS

2220

Coding sequence (CDS) position

1162

cDNA position

1368

gDNA position

6959

Chromosomal position

113898754

Speed

0.50 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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