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: ENST00000531287
Querying Taster for transcript #2: ENST00000300650
Querying Taster for transcript #3: ENST00000531452
Querying Taster for transcript #4: ENST00000530849
MT speed 0.25 s - this script 2.692806 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000531452	RNF214	Deleterious	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000300650(MANE Select)	RNF214	Benign	29\|71	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000531287	RNF214	Benign	46\|54	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000530849	RNF214	Benign	47\|53	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

11:117238633C>T_3_ENST00000531452

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 54|46 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:117238633C>T (GRCh38)

Gene symbol

RNF214

Gene constraints

LOEUF: 0.44, LOF (oe): 0.29, misssense (oe): 0.80, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000531452.5

Genbank transcript ID

NM_001077239 (by similarity)

UniProt / AlphaMissense peptide

RN214_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.140C>T
g.6009C>T

AA changes

AAE:	S47L	?
Score:	145

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199853953
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	L	S	V	S	S	Q	T	I	T	K
mutated	not conserved	47	S	T	K	D	S	A	Q	K	Q	K	N	L	P	L	L	S	V	S	S	Q	T	I	T
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	59	REGION		lost
2	703	CHAIN		lost
37	59	COMPBIAS	Polar residues	lost
47	47	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.114	0.913
	0.341	0.387
(flanking)	-0.124	0.214

?

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

11

Strand

1

Original gDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered gDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Original cDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered cDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Wildtype AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNSPLL SVSSQTITKE
NNRNVHLEHS EQNPGSSAGD TSAAHQVVLG ENLIATALCL SGSGSQSDLK DVASTAGEEG
DTSLRESLHP VTRSLKAGCH TKQLASRNCS EEKSPQTSIL KEGNRDTSLD FRPVVSPANG
VEGVRVDQDD DQDSSSLKLS QNIAVQTDFK TADSEVNTDQ DIEKNLDKMM TERTLLKERY
QEVLDKQRQV ENQLQVQLKQ LQQRREEEMK NHQEILKAIQ DVTIKREETK KKIEKEKKEF
LQKEQDLKAE IEKLCEKGRR EVWEMELDRL KNQDGEINRN IMEETERAWK AEILSLESRK
ELLVLKLEEA EKEAELHLTY LKSTPPTLET VRSKQEWETR LNGVRIMKKN VRDQFNSHIQ
LVRNGAKLSS LPQIPTPTLP PPPSETDFML QVFQPSPSLA PRMPFSIGQV TMPMVMPSAD
PRSLSFPILN PALSQPSQPS SPLPGSHGRN SPGLGSLVSP HGPHMPPAAS IPPPPGLGGV
KASAETPRPQ PVDKLEKILE KLLTRFPQCN KAQMTNILQQ IKTARTTMAG LTMEELIQLV
AARLAEHERV AASTQPLGRI RALFPAPLAQ ISTPMFLPSA QVSYPGRSSH APATCKLCLM
CQKLVQPSEL HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Mutated AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNLPLL SVSSQTITKE
NNRNVHLEHS EQNPGSSAGD TSAAHQVVLG ENLIATALCL SGSGSQSDLK DVASTAGEEG
DTSLRESLHP VTRSLKAGCH TKQLASRNCS EEKSPQTSIL KEGNRDTSLD FRPVVSPANG
VEGVRVDQDD DQDSSSLKLS QNIAVQTDFK TADSEVNTDQ DIEKNLDKMM TERTLLKERY
QEVLDKQRQV ENQLQVQLKQ LQQRREEEMK NHQEILKAIQ DVTIKREETK KKIEKEKKEF
LQKEQDLKAE IEKLCEKGRR EVWEMELDRL KNQDGEINRN IMEETERAWK AEILSLESRK
ELLVLKLEEA EKEAELHLTY LKSTPPTLET VRSKQEWETR LNGVRIMKKN VRDQFNSHIQ
LVRNGAKLSS LPQIPTPTLP PPPSETDFML QVFQPSPSLA PRMPFSIGQV TMPMVMPSAD
PRSLSFPILN PALSQPSQPS SPLPGSHGRN SPGLGSLVSP HGPHMPPAAS IPPPPGLGGV
KASAETPRPQ PVDKLEKILE KLLTRFPQCN KAQMTNILQQ IKTARTTMAG LTMEELIQLV
AARLAEHERV AASTQPLGRI RALFPAPLAQ ISTPMFLPSA QVSYPGRSSH APATCKLCLM
CQKLVQPSEL HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Position of stopcodon in wt / mu CDS

2112 / 2112

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

704 / 704

Position of stopcodon in wt / mu cDNA

2158 / 2158

Position of start ATG in wt / mu cDNA

47 / 47

Last intron/exon boundary

2092

Theoretical NMD boundary in CDS

1995

Length of CDS

2112

Coding sequence (CDS) position

140

cDNA position

186

gDNA position

6009

Chromosomal position

117238633

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:

11:117238633C>T_2_ENST00000300650

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr11:117238633C>T (GRCh38)

Gene symbol

RNF214

Gene constraints

LOEUF: 0.44, LOF (oe): 0.29, misssense (oe): 0.80, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000300650.9

Genbank transcript ID

NM_207343 (exact from MANE)

UniProt / AlphaMissense peptide

RN214_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.140C>T
g.6009C>T

AA changes

AAE:	S47L	?
Score:	145

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199853953
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	L	S	V	S	S	Q	T	I	T	K
mutated	not conserved	47	S	T	K	D	S	A	Q	K	Q	K	N	L	P	L	L	S	V	S	S	Q	T	I	T
Ptroglodytes	all identical	47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	S	S	V	S	S	Q	T	I	T
Mmulatta	all identical	47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	L	S	V	S	S	Q	T	I	T
Fcatus	all identical	48	S	P	K	D	P	A	Q	K	H	K	N	S	P	L	S	S	V	S	S	Q	T	I	T
Mmusculus	not conserved	47	S	P	K	D	S	A	Q	K	Q	K	N	L	S	P	P	S	V	S	S	Q	M	I	T
Ggallus	no alignment	n/a
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	59	REGION		lost
2	703	CHAIN		lost
37	59	COMPBIAS	Polar residues	lost
47	47	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.114	0.913
	0.341	0.387
(flanking)	-0.124	0.214

?

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

11

Strand

1

Original gDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered gDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Original cDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered cDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Wildtype AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNSPLL SVSSQTITKE
NNRNVHLEHS EQNPGSSAGD TSAAHQVVLG ENLIATALCL SGSGSQSDLK DVASTAGEEG
DTSLRESLHP VTRSLKAGCH TKQLASRNCS EEKSPQTSIL KEGNRDTSLD FRPVVSPANG
VEGVRVDQDD DQDSSSLKLS QNIAVQTDFK TADSEVNTDQ DIEKNLDKMM TERTLLKERY
QEVLDKQRQV ENQLQVQLKQ LQQRREEEMK NHQEILKAIQ DVTIKREETK KKIEKEKKEF
LQKEQDLKAE IEKLCEKGRR EVWEMELDRL KNQDGEINRN IMEETERAWK AEILSLESRK
ELLVLKLEEA EKEAELHLTY LKSTPPTLET VRSKQEWETR LNGVRIMKKN VRDQFNSHIQ
LVRNGAKLSS LPQIPTPTLP PPPSETDFML QVFQPSPSLA PRMPFSIGQV TMPMVMPSAD
PRSLSFPILN PALSQPSQPS SPLPGSHGRN SPGLGSLVSP HGPHMPPAAS IPPPPGLGGV
KASAETPRPQ PVDKLEKILE KLLTRFPQCN KAQMTNILQQ IKTARTTMAG LTMEELIQLV
AARLAEHERV AASTQPLGRI RALFPAPLAQ ISTPMFLPSA QVSYPGRSSH APATCKLCLM
CQKLVQPSEL HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Mutated AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNLPLL SVSSQTITKE
NNRNVHLEHS EQNPGSSAGD TSAAHQVVLG ENLIATALCL SGSGSQSDLK DVASTAGEEG
DTSLRESLHP VTRSLKAGCH TKQLASRNCS EEKSPQTSIL KEGNRDTSLD FRPVVSPANG
VEGVRVDQDD DQDSSSLKLS QNIAVQTDFK TADSEVNTDQ DIEKNLDKMM TERTLLKERY
QEVLDKQRQV ENQLQVQLKQ LQQRREEEMK NHQEILKAIQ DVTIKREETK KKIEKEKKEF
LQKEQDLKAE IEKLCEKGRR EVWEMELDRL KNQDGEINRN IMEETERAWK AEILSLESRK
ELLVLKLEEA EKEAELHLTY LKSTPPTLET VRSKQEWETR LNGVRIMKKN VRDQFNSHIQ
LVRNGAKLSS LPQIPTPTLP PPPSETDFML QVFQPSPSLA PRMPFSIGQV TMPMVMPSAD
PRSLSFPILN PALSQPSQPS SPLPGSHGRN SPGLGSLVSP HGPHMPPAAS IPPPPGLGGV
KASAETPRPQ PVDKLEKILE KLLTRFPQCN KAQMTNILQQ IKTARTTMAG LTMEELIQLV
AARLAEHERV AASTQPLGRI RALFPAPLAQ ISTPMFLPSA QVSYPGRSSH APATCKLCLM
CQKLVQPSEL HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Position of stopcodon in wt / mu CDS

2112 / 2112

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

704 / 704

Position of stopcodon in wt / mu cDNA

2174 / 2174

Position of start ATG in wt / mu cDNA

63 / 63

Last intron/exon boundary

2108

Theoretical NMD boundary in CDS

1995

Length of CDS

2112

Coding sequence (CDS) position

140

cDNA position

202

gDNA position

6009

Chromosomal position

117238633

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:

11:117238633C>T_1_ENST00000531287

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 46|54 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:117238633C>T (GRCh38)

Gene symbol

RNF214

Gene constraints

LOEUF: 0.43, LOF (oe): 0.27, misssense (oe): 0.72, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000531287.5

Genbank transcript ID

NM_001278249 (by similarity)

UniProt / AlphaMissense peptide

RN214_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.140C>T
g.6009C>T

AA changes

AAE:	S47L	?
Score:	145

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199853953
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	L	S	T	D	F	K	T	A	D	S
mutated	not conserved	47	S	T	K	D	S	A	Q	K	Q	K	N	L	P	L	L	S	T	D	F	K	T	A	D
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	59	REGION		lost
2	703	CHAIN		lost
37	59	COMPBIAS	Polar residues	lost
47	47	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.114	0.913
	0.341	0.387
(flanking)	-0.124	0.214

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

14

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered gDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Original cDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTACTGACT

Altered cDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTACTGACT

Wildtype AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNSPLL STDFKTADSE
VNTDQDIEKN LDKMMTERTL LKERYQEVLD KQRQVENQLQ VQLKQLQQRR EEEMKNHQEI
LKAIQDVTIK REETKKKIEK EKKEFLQKEQ DLKAEIEKLC EKGRREVWEM ELDRLKNQDG
EINRNIMEET ERAWKAEILS LESRKELLVL KLEEAEKEAE LHLTYLKSTP PTLETVRSKQ
EWETRLNGVR IMKKNVRDQF NSHIQLVRNG AKLSSLPQIP TPTLPPPPSE TDFMLQVFQP
SPSLAPRMPF SIGQVTMPMV MPSADPRSLS FPILNPALSQ PSQPSSPLPG SHGRNSPGLG
SLVSPHGPHM PPAASIPPPP GLGGVKASAE TPRPQPVDKL EKILEKLLTR FPQCNKAQMT
NILQQIKTAR TTMAGLTMEE LIQLVAARLA EHERVAASTQ PLGRIRALFP APLAQISTPM
FLPSAQVSYP GRSSHAPATC KLCLMCQKLV QPSELHPMAC THVLHKECIK FWAQTNTNDT
CPFCPTLK*

Mutated AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNLPLL STDFKTADSE
VNTDQDIEKN LDKMMTERTL LKERYQEVLD KQRQVENQLQ VQLKQLQQRR EEEMKNHQEI
LKAIQDVTIK REETKKKIEK EKKEFLQKEQ DLKAEIEKLC EKGRREVWEM ELDRLKNQDG
EINRNIMEET ERAWKAEILS LESRKELLVL KLEEAEKEAE LHLTYLKSTP PTLETVRSKQ
EWETRLNGVR IMKKNVRDQF NSHIQLVRNG AKLSSLPQIP TPTLPPPPSE TDFMLQVFQP
SPSLAPRMPF SIGQVTMPMV MPSADPRSLS FPILNPALSQ PSQPSSPLPG SHGRNSPGLG
SLVSPHGPHM PPAASIPPPP GLGGVKASAE TPRPQPVDKL EKILEKLLTR FPQCNKAQMT
NILQQIKTAR TTMAGLTMEE LIQLVAARLA EHERVAASTQ PLGRIRALFP APLAQISTPM
FLPSAQVSYP GRSSHAPATC KLCLMCQKLV QPSELHPMAC THVLHKECIK FWAQTNTNDT
CPFCPTLK*

Position of stopcodon in wt / mu CDS

1647 / 1647

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

549 / 549

Position of stopcodon in wt / mu cDNA

1693 / 1693

Position of start ATG in wt / mu cDNA

47 / 47

Last intron/exon boundary

1627

Theoretical NMD boundary in CDS

1530

Length of CDS

1647

Coding sequence (CDS) position

140

cDNA position

186

gDNA position

6009

Chromosomal position

117238633

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:

11:117238633C>T_4_ENST00000530849

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 47|53 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:117238633C>T (GRCh38)

Gene symbol

RNF214

Gene constraints

LOEUF: 0.46, LOF (oe): 0.28, misssense (oe): 0.71, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000530849.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.140C>T
g.6009C>T

AA changes

AAE:	S47L	?
Score:	145

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs199853953
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		47	S	T	K	D	S	A	Q	K	Q	K	N	S	P	L	L	S	T	D	F	K	T	A	D	S
mutated	not conserved	47	S	T	K	D	S	A	Q	K	Q	K	N	L	P	L	L	S	T	D	F	K	T	A	D
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)	1.114	0.913
	0.341	0.387
(flanking)	-0.124	0.214

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

14

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTGTAAGTA

Altered gDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTGTAAGTA

Original cDNA sequence snippet

TGCACAGAAGCAGAAGAACTCGCCTCTGTTGAGTACTGACT

Altered cDNA sequence snippet

TGCACAGAAGCAGAAGAACTTGCCTCTGTTGAGTACTGACT

Wildtype AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNSPLL STDFKTADSE
VNTDQDIEKN LDKMMTERTL LKERYQEVLD KQRQVENQLQ VQLKQLQQRR EEEMKNHQEI
LKAIQDVTIK REETKKKIEK EKKEFLQKEQ DLKAEIEKLC EKGRREVWEM ELDRLKNQDG
EINRNIMEET ERAWKAEILS LESRKELLVL KLEEAEKEAE LHLTYLKSTP PTLETVRSKQ
EWETRLNGVR IMKKNVRDQF NSHIQLVRNG AKLSSLPQIP TPTLPPPPSE TDFMLQVFQP
SPSLAPRMPF SIGQVTMPMV MPSADPRSLS FPILNPALSQ PSQPSSPLPG SHGRNSPGLG
SLVSPHGPHM PPAASIPPPP GLGGVKASAE TPRPQPVDKL EKILEKLLTR FPQCNKAQMT
NILQQIKTAR TTMAGLTMEE LIQLVAARLA EHERVAASTQ APATCKLCLM CQKLVQPSEL
HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Mutated AA sequence

MAASEVAGVV ANAPSPPESS SLCASKSDEG LPDGLSTKDS AQKQKNLPLL STDFKTADSE
VNTDQDIEKN LDKMMTERTL LKERYQEVLD KQRQVENQLQ VQLKQLQQRR EEEMKNHQEI
LKAIQDVTIK REETKKKIEK EKKEFLQKEQ DLKAEIEKLC EKGRREVWEM ELDRLKNQDG
EINRNIMEET ERAWKAEILS LESRKELLVL KLEEAEKEAE LHLTYLKSTP PTLETVRSKQ
EWETRLNGVR IMKKNVRDQF NSHIQLVRNG AKLSSLPQIP TPTLPPPPSE TDFMLQVFQP
SPSLAPRMPF SIGQVTMPMV MPSADPRSLS FPILNPALSQ PSQPSSPLPG SHGRNSPGLG
SLVSPHGPHM PPAASIPPPP GLGGVKASAE TPRPQPVDKL EKILEKLLTR FPQCNKAQMT
NILQQIKTAR TTMAGLTMEE LIQLVAARLA EHERVAASTQ APATCKLCLM CQKLVQPSEL
HPMACTHVLH KECIKFWAQT NTNDTCPFCP TLK*

Position of stopcodon in wt / mu CDS

1542 / 1542

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

514 / 514

Position of stopcodon in wt / mu cDNA

1552 / 1552

Position of start ATG in wt / mu cDNA

11 / 11

Last intron/exon boundary

1486

Theoretical NMD boundary in CDS

1425

Length of CDS

1542

Coding sequence (CDS) position

140

cDNA position

150

gDNA position

6009

Chromosomal position

117238633

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

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