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: ENST00000315872
Querying Taster for transcript #2: ENST00000697752
Querying Taster for transcript #3: ENST00000401753
MT speed 0.27 s - this script 2.674323 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000315872(MANE Select)	ROCK2	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000697752	ROCK2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000401753	ROCK2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

2:11192516C>T_1_ENST00000315872

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

Chr2:11192516C>T (GRCh38)

Gene symbol

ROCK2

Gene constraints

LOEUF: 0.35, LOF (oe): 0.25, misssense (oe): 0.65, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000315872.11

Genbank transcript ID

NM_004850 (exact from MANE), NM_001321643 (by similarity)

UniProt / AlphaMissense peptide

ROCK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3884G>A
g.155815G>A

AA changes

AAE:	R1295H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2148030695
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1295	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D	K
mutated	not conserved	1295	M	F	K	P	P	P	A	L	E	C	R	H	C	H	I	K	C	H	K	D	H	M	D
Ptroglodytes	all identical	1295	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Mmulatta	all identical	1352	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Fcatus	all identical	1350	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Mmusculus	all identical	1352	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Ggallus	all identical	1357	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Trubripes	all identical	2782	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D
Drerio	no homologue
Dmelanogaster	all identical	1288	M	F	K	P	P	A	A	Y	E	C	K	R	C	R	N	K	I	H	K	E	H	V	D
Celegans	no homologue
Xtropicalis	all identical	1342	M	F	K	P	P	A	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D

Protein features

Start (aa)	End (aa)	Feature	Details
1	1388	CHAIN		lost
1150	1349	DOMAIN	PH	lost
1260	1315	ZN_FING	Phorbol-ester/DAG-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.586	1
	7.902	1
(flanking)	6.72	1

?

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

2

Strand

-1

Original gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Original cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Wildtype AA sequence

MSRPPPTGKM PGAPETAPGD GAGASRQRKL EALIRDPRSP INVESLLDGL NSLVLDLDFP
ALRKNKNIDN FLNRYEKIVK KIRGLQMKAE DYDVVKVIGR GAFGEVQLVR HKASQKVYAM
KLLSKFEMIK RSDSAFFWEE RDIMAFANSP WVVQLFYAFQ DDRYLYMVME YMPGGDLVNL
MSNYDVPEKW AKFYTAEVVL ALDAIHSMGL IHRDVKPDNM LLDKHGHLKL ADFGTCMKMD
ETGMVHCDTA VGTPDYISPE VLKSQGGDGF YGRECDWWSV GVFLYEMLVG DTPFYADSLV
GTYSKIMDHK NSLCFPEDAE ISKHAKNLIC AFLTDREVRL GRNGVEEIRQ HPFFKNDQWH
WDNIRETAAP VVPELSSDID SSNFDDIEDD KGDVETFPIP KAFVGNQLPF IGFTYYRENL
LLSDSPSCRE TDSIQSRKNE ESQEIQKKLY TLEEHLSNEM QAKEELEQKC KSVNTRLEKT
AKELEEEITL RKSVESALRQ LEREKALLQH KNAEYQRKAD HEADKKRNLE NDVNSLKDQL
EDLKKRNQNS QISTEKVNQL QRQLDETNAL LRTESDTAAR LRKTQAESSK QIQQLESNNR
DLQDKNCLLE TAKLKLEKEF INLQSALESE RRDRTHGSEI INDLQGRICG LEEDLKNGKI
LLAKVELEKR QLQERFTDLE KEKSNMEIDM TYQLKVIQQS LEQEEAEHKA TKARLADKNK
IYESIEEAKS EAMKEMEKKL LEERTLKQKV ENLLLEAEKR CSLLDCDLKQ SQQKINELLK
QKDVLNEDVR NLTLKIEQET QKRCLTQNDL KMQTQQVNTL KMSEKQLKQE NNHLMEMKMN
LEKQNAELRK ERQDADGQMK ELQDQLEAEQ YFSTLYKTQV RELKEECEEK TKLGKELQQK
KQELQDERDS LAAQLEITLT KADSEQLARS IAEEQYSDLE KEKIMKELEI KEMMARHKQE
LTEKDATIAS LEETNRTLTS DVANLANEKE ELNNKLKDVQ EQLSRLKDEE ISAAAIKAQF
EKQLLTERTL KTQAVNKLAE IMNRKEPVKR GNDTDVRRKE KENRKLHMEL KSEREKLTQQ
MIKYQKELNE MQAQIAEESQ IRIELQMTLD SKDSDIEQLR SQLQALHIGL DSSSIGSGPG
DAEADDGFPE SRLEGWLSLP VRNNTKKFGW VKKYVIVSSK KILFYDSEQD KEQSNPYMVL
DIDKLFHVRP VTQTDVYRAD AKEIPRIFQI LYANEGESKK EQEFPVEPVG EKSNYICHKG
HEFIPTLYHF PTNCEACMKP LWHMFKPPPA LECRRCHIKC HKDHMDKKEE IIAPCKVYYD
ISTAKNLLLL ANSTEEQQKW VSRLVKKIPK KPPAPDPFAR SSPRTSMKIQ QNQSIRRPSR
QLAPNKPS*

Mutated AA sequence

MSRPPPTGKM PGAPETAPGD GAGASRQRKL EALIRDPRSP INVESLLDGL NSLVLDLDFP
ALRKNKNIDN FLNRYEKIVK KIRGLQMKAE DYDVVKVIGR GAFGEVQLVR HKASQKVYAM
KLLSKFEMIK RSDSAFFWEE RDIMAFANSP WVVQLFYAFQ DDRYLYMVME YMPGGDLVNL
MSNYDVPEKW AKFYTAEVVL ALDAIHSMGL IHRDVKPDNM LLDKHGHLKL ADFGTCMKMD
ETGMVHCDTA VGTPDYISPE VLKSQGGDGF YGRECDWWSV GVFLYEMLVG DTPFYADSLV
GTYSKIMDHK NSLCFPEDAE ISKHAKNLIC AFLTDREVRL GRNGVEEIRQ HPFFKNDQWH
WDNIRETAAP VVPELSSDID SSNFDDIEDD KGDVETFPIP KAFVGNQLPF IGFTYYRENL
LLSDSPSCRE TDSIQSRKNE ESQEIQKKLY TLEEHLSNEM QAKEELEQKC KSVNTRLEKT
AKELEEEITL RKSVESALRQ LEREKALLQH KNAEYQRKAD HEADKKRNLE NDVNSLKDQL
EDLKKRNQNS QISTEKVNQL QRQLDETNAL LRTESDTAAR LRKTQAESSK QIQQLESNNR
DLQDKNCLLE TAKLKLEKEF INLQSALESE RRDRTHGSEI INDLQGRICG LEEDLKNGKI
LLAKVELEKR QLQERFTDLE KEKSNMEIDM TYQLKVIQQS LEQEEAEHKA TKARLADKNK
IYESIEEAKS EAMKEMEKKL LEERTLKQKV ENLLLEAEKR CSLLDCDLKQ SQQKINELLK
QKDVLNEDVR NLTLKIEQET QKRCLTQNDL KMQTQQVNTL KMSEKQLKQE NNHLMEMKMN
LEKQNAELRK ERQDADGQMK ELQDQLEAEQ YFSTLYKTQV RELKEECEEK TKLGKELQQK
KQELQDERDS LAAQLEITLT KADSEQLARS IAEEQYSDLE KEKIMKELEI KEMMARHKQE
LTEKDATIAS LEETNRTLTS DVANLANEKE ELNNKLKDVQ EQLSRLKDEE ISAAAIKAQF
EKQLLTERTL KTQAVNKLAE IMNRKEPVKR GNDTDVRRKE KENRKLHMEL KSEREKLTQQ
MIKYQKELNE MQAQIAEESQ IRIELQMTLD SKDSDIEQLR SQLQALHIGL DSSSIGSGPG
DAEADDGFPE SRLEGWLSLP VRNNTKKFGW VKKYVIVSSK KILFYDSEQD KEQSNPYMVL
DIDKLFHVRP VTQTDVYRAD AKEIPRIFQI LYANEGESKK EQEFPVEPVG EKSNYICHKG
HEFIPTLYHF PTNCEACMKP LWHMFKPPPA LECRHCHIKC HKDHMDKKEE IIAPCKVYYD
ISTAKNLLLL ANSTEEQQKW VSRLVKKIPK KPPAPDPFAR SSPRTSMKIQ QNQSIRRPSR
QLAPNKPS*

Position of stopcodon in wt / mu CDS

4167 / 4167

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

1389 / 1389

Position of stopcodon in wt / mu cDNA

4667 / 4667

Position of start ATG in wt / mu cDNA

501 / 501

Last intron/exon boundary

4663

Theoretical NMD boundary in CDS

4112

Length of CDS

4167

Coding sequence (CDS) position

3884

cDNA position

4384

gDNA position

155815

Chromosomal position

11192516

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:

2:11192516C>T_2_ENST00000697752

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:11192516C>T (GRCh38)

Gene symbol

ROCK2

Gene constraints

no data

Ensembl transcript ID

ENST00000697752.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4055G>A
g.155815G>A

AA changes

AAE:	R1352H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2148030695
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1352	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D	K
mutated	not conserved	1352	M	F	K	P	P	P	A	L	E	C	R	H	C	H	I	K	C	H	K	D	H	M	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)	1.586	1
	7.902	1
(flanking)	6.72	1

?

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

2

Strand

-1

Original gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Original cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Wildtype AA sequence

MSRPPPTGKM PGAPETAPGD GAGASRQRKL EALIRDPRSP INVESLLDGL NSLVLDLDFP
ALRKNKNIDN FLNRYEKIVK KIRGLQMKAE DYDVVKVIGR GAFGEVQLVR HKASQKVYAM
KLLSKFEMIK RSDSAFFWEE RDIMAFANSP WVVQLFYAFQ DDRYLYMVME YMPGGDLVNL
MSNYDVPEKW AKFYTAEVVL ALDAIHSMGL IHRDVKPDNM LLDKHGHLKL ADFGTCMKMD
ETGMVHCDTA VGTPDYISPE VLKSQGGDGF YGRECDWWSV GVFLYEMLVG DTPFYADSLV
GTYSKIMDHK NSLCFPEDAE ISKHAKNLIC AFLTDREVRL GRNGVEEIRQ HPFFKNDQWH
WDNIRETAAP VVPELSSDID SSNFDDIEDD KGDVETFPIP KAFVGNQLPF IGFTYYRENL
LLSDSPSCRE TDSIQSRKNE ESQEIQKKLY TLEEHLSNEM QAKEELEQKC KSVNTRLEKT
AKELEEEITL RKSVESALRQ LEREKALLQH KNAEYQRKAD HEADKKRNLE NDVNSLKDQL
EDLKKRNQNS QISTEKVNQL QRQLDETNAL LRTESDTAAR LRKTQAESSK QIQQLESNNR
DLQDKNCLLE TAKLKLEKEF INLQSALESE RRDRTHGSEI INDLQGRICG LEEDLKNGKI
LLAKVELEKR QLQERFTDLE KEKSNMEIDM TYQLKVIQQS LEQEEAEHKA TKARLADKNK
IYESIEEAKS EAMKEMEKKL LEERTLKQKV ENLLLEAEKR CSLLDCDLKQ SQQKINELLK
QKDVLNEDVR NLTLKIEQET QKRCLTQNDL KMQTQQVNTL KMSEKQLKQE NNHLMEMKMN
LEKQNAELRK ERQDADGQMK ELQDQLEAEQ YFSTLYKTQV RELKEECEEK TKLGKELQQK
KQELQDERDS LAAQLEITLT KADSEQLARS IAEEQYSDLE KEKIMKELEI KEMMARHKQE
LTEKDATIAS LEETNRTLTS DVANLANEKE ELNNKLKDVQ EQLSRLKDEE ISAAAIKAQF
EKQLLTERTL KTQAVNKLAE IMNRKEPVKR GNDTDVRRKE KENRKLHMEL KSEREKLTQQ
MIKYQKELNE MQAQIAEESQ IRIELQMTLD SKDSDIEQLR SQLQALHIGL DSSSIGSGPG
DAEADDGFPV HITQSHTMES MSFTYQRSST SLNIATKPSS SHTLLDSDSD SEEESLPYLP
ISSEPNESRL EGWLSLPVRN NTKKFGWVKK YVIVSSKKIL FYDSEQDKEQ SNPYMVLDID
KLFHVRPVTQ TDVYRADAKE IPRIFQILYA NEGESKKEQE FPVEPVGEKS NYICHKGHEF
IPTLYHFPTN CEACMKPLWH MFKPPPALEC RRCHIKCHKD HMDKKEEIIA PCKVYYDIST
AKNLLLLANS TEEQQKWVSR LVKKIPKKPP APDPFARSSP RTSMKIQQNQ SIRRPSRQLA
PNKPS*

Mutated AA sequence

MSRPPPTGKM PGAPETAPGD GAGASRQRKL EALIRDPRSP INVESLLDGL NSLVLDLDFP
ALRKNKNIDN FLNRYEKIVK KIRGLQMKAE DYDVVKVIGR GAFGEVQLVR HKASQKVYAM
KLLSKFEMIK RSDSAFFWEE RDIMAFANSP WVVQLFYAFQ DDRYLYMVME YMPGGDLVNL
MSNYDVPEKW AKFYTAEVVL ALDAIHSMGL IHRDVKPDNM LLDKHGHLKL ADFGTCMKMD
ETGMVHCDTA VGTPDYISPE VLKSQGGDGF YGRECDWWSV GVFLYEMLVG DTPFYADSLV
GTYSKIMDHK NSLCFPEDAE ISKHAKNLIC AFLTDREVRL GRNGVEEIRQ HPFFKNDQWH
WDNIRETAAP VVPELSSDID SSNFDDIEDD KGDVETFPIP KAFVGNQLPF IGFTYYRENL
LLSDSPSCRE TDSIQSRKNE ESQEIQKKLY TLEEHLSNEM QAKEELEQKC KSVNTRLEKT
AKELEEEITL RKSVESALRQ LEREKALLQH KNAEYQRKAD HEADKKRNLE NDVNSLKDQL
EDLKKRNQNS QISTEKVNQL QRQLDETNAL LRTESDTAAR LRKTQAESSK QIQQLESNNR
DLQDKNCLLE TAKLKLEKEF INLQSALESE RRDRTHGSEI INDLQGRICG LEEDLKNGKI
LLAKVELEKR QLQERFTDLE KEKSNMEIDM TYQLKVIQQS LEQEEAEHKA TKARLADKNK
IYESIEEAKS EAMKEMEKKL LEERTLKQKV ENLLLEAEKR CSLLDCDLKQ SQQKINELLK
QKDVLNEDVR NLTLKIEQET QKRCLTQNDL KMQTQQVNTL KMSEKQLKQE NNHLMEMKMN
LEKQNAELRK ERQDADGQMK ELQDQLEAEQ YFSTLYKTQV RELKEECEEK TKLGKELQQK
KQELQDERDS LAAQLEITLT KADSEQLARS IAEEQYSDLE KEKIMKELEI KEMMARHKQE
LTEKDATIAS LEETNRTLTS DVANLANEKE ELNNKLKDVQ EQLSRLKDEE ISAAAIKAQF
EKQLLTERTL KTQAVNKLAE IMNRKEPVKR GNDTDVRRKE KENRKLHMEL KSEREKLTQQ
MIKYQKELNE MQAQIAEESQ IRIELQMTLD SKDSDIEQLR SQLQALHIGL DSSSIGSGPG
DAEADDGFPV HITQSHTMES MSFTYQRSST SLNIATKPSS SHTLLDSDSD SEEESLPYLP
ISSEPNESRL EGWLSLPVRN NTKKFGWVKK YVIVSSKKIL FYDSEQDKEQ SNPYMVLDID
KLFHVRPVTQ TDVYRADAKE IPRIFQILYA NEGESKKEQE FPVEPVGEKS NYICHKGHEF
IPTLYHFPTN CEACMKPLWH MFKPPPALEC RHCHIKCHKD HMDKKEEIIA PCKVYYDIST
AKNLLLLANS TEEQQKWVSR LVKKIPKKPP APDPFARSSP RTSMKIQQNQ SIRRPSRQLA
PNKPS*

Position of stopcodon in wt / mu CDS

4338 / 4338

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

1446 / 1446

Position of stopcodon in wt / mu cDNA

4838 / 4838

Position of start ATG in wt / mu cDNA

501 / 501

Last intron/exon boundary

4834

Theoretical NMD boundary in CDS

4283

Length of CDS

4338

Coding sequence (CDS) position

4055

cDNA position

4555

gDNA position

155815

Chromosomal position

11192516

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:

2:11192516C>T_3_ENST00000401753

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:11192516C>T (GRCh38)

Gene symbol

ROCK2

Gene constraints

LOEUF: 0.33, LOF (oe): 0.23, misssense (oe): 0.63, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000401753.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3155G>A
g.155815G>A

AA changes

AAE:	R1052H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2148030695
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		1052	M	F	K	P	P	P	A	L	E	C	R	R	C	H	I	K	C	H	K	D	H	M	D	K
mutated	not conserved	1052	M	F	K	P	P	P	A	L	E	C	R	H	C	H	I	K	C	H	K	D	H	M	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)	1.586	1
	7.902	1
(flanking)	6.72	1

?

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

2

Strand

-1

Original gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered gDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Original cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCGTTGCCATATTAAGTGTCATA

Altered cDNA sequence snippet

TCCTGCTTTGGAGTGCCGCCATTGCCATATTAAGTGTCATA

Wildtype AA sequence

MVHCDTAVGT PDYISPEVLK SQGGDGFYGR ECDWWSVGVF LYEMLVGDTP FYADSLVGTY
SKIMDHKNSL CFPEDAEISK HAKNLICAFL TDREVRLGRN GVEEIRQHPF FKNDQWHWDN
IRETAAPVVP ELSSDIDSSN FDDIEDDKGD VETFPIPKAF VGNQLPFIGF TYYRENLLLS
DSPSCRETDS IQSRKNEESQ EIQKKLYTLE EHLSNEMQAK EELEQKCKSV NTRLEKTAKE
LEEEITLRKS VESALRQLER EKALLQHKNA EYQRKADHEA DKKRNLENDV NSLKDQLEDL
KKRNQNSQIS TEKVNQLQRQ LDETNALLRT ESDTAARLRK TQAESSKQIQ QLESNNRDLQ
DKNCLLETAK LKLEKEFINL QSALESERRD RTHGSEIIND LQGRICGLEE DLKNGKILLA
KVELEKRQLQ ERFTDLEKEK SNMEIDMTYQ LKVIQQSLEQ EEAEHKATKA RLADKNKIYE
SIEEAKSEAM KEMEKKLLEE RTLKQKVENL LLEAEKRCSL LDCDLKQSQQ KINELLKQKD
VLNEDVRNLT LKIEQETQKR CLTQNDLKMQ TQQVNTLKMS EKQLKQENNH LMEMKMNLEK
QNAELRKERQ DADGQMKELQ DQLEAEQYFS TLYKTQVREL KEECEEKTKL GKELQQKKQE
LQDERDSLAA QLEITLTKAD SEQLARSIAE EQYSDLEKEK IMKELEIKEM MARHKQELTE
KDATIASLEE TNRTLTSDVA NLANEKEELN NKLKDVQEQL SRLKDEEISA AAIKAQFEKQ
LLTERTLKTQ AVNKLAEIMN RKEPVKRGND TDVRRKEKEN RKLHMELKSE REKLTQQMIK
YQKELNEMQA QIAEESQIRI ELQMTLDSKD SDIEQLRSQL QALHIGLDSS SIGSGPGDAE
ADDGFPESRL EGWLSLPVRN NTKKFGWVKK YVIVSSKKIL FYDSEQDKEQ SNPYMVLDID
KLFHVRPVTQ TDVYRADAKE IPRIFQILYA NEGESKKEQE FPVEPVGEKS NYICHKGHEF
IPTLYHFPTN CEACMKPLWH MFKPPPALEC RRCHIKCHKD HMDKKEEIIA PCKVYYDIST
AKNLLLLANS TEEQQKWVSR LVKKIPKKPP APDPFARSSP RTSMKIQQNQ SIRRPSRQLA
PNKPS*

Mutated AA sequence

MVHCDTAVGT PDYISPEVLK SQGGDGFYGR ECDWWSVGVF LYEMLVGDTP FYADSLVGTY
SKIMDHKNSL CFPEDAEISK HAKNLICAFL TDREVRLGRN GVEEIRQHPF FKNDQWHWDN
IRETAAPVVP ELSSDIDSSN FDDIEDDKGD VETFPIPKAF VGNQLPFIGF TYYRENLLLS
DSPSCRETDS IQSRKNEESQ EIQKKLYTLE EHLSNEMQAK EELEQKCKSV NTRLEKTAKE
LEEEITLRKS VESALRQLER EKALLQHKNA EYQRKADHEA DKKRNLENDV NSLKDQLEDL
KKRNQNSQIS TEKVNQLQRQ LDETNALLRT ESDTAARLRK TQAESSKQIQ QLESNNRDLQ
DKNCLLETAK LKLEKEFINL QSALESERRD RTHGSEIIND LQGRICGLEE DLKNGKILLA
KVELEKRQLQ ERFTDLEKEK SNMEIDMTYQ LKVIQQSLEQ EEAEHKATKA RLADKNKIYE
SIEEAKSEAM KEMEKKLLEE RTLKQKVENL LLEAEKRCSL LDCDLKQSQQ KINELLKQKD
VLNEDVRNLT LKIEQETQKR CLTQNDLKMQ TQQVNTLKMS EKQLKQENNH LMEMKMNLEK
QNAELRKERQ DADGQMKELQ DQLEAEQYFS TLYKTQVREL KEECEEKTKL GKELQQKKQE
LQDERDSLAA QLEITLTKAD SEQLARSIAE EQYSDLEKEK IMKELEIKEM MARHKQELTE
KDATIASLEE TNRTLTSDVA NLANEKEELN NKLKDVQEQL SRLKDEEISA AAIKAQFEKQ
LLTERTLKTQ AVNKLAEIMN RKEPVKRGND TDVRRKEKEN RKLHMELKSE REKLTQQMIK
YQKELNEMQA QIAEESQIRI ELQMTLDSKD SDIEQLRSQL QALHIGLDSS SIGSGPGDAE
ADDGFPESRL EGWLSLPVRN NTKKFGWVKK YVIVSSKKIL FYDSEQDKEQ SNPYMVLDID
KLFHVRPVTQ TDVYRADAKE IPRIFQILYA NEGESKKEQE FPVEPVGEKS NYICHKGHEF
IPTLYHFPTN CEACMKPLWH MFKPPPALEC RHCHIKCHKD HMDKKEEIIA PCKVYYDIST
AKNLLLLANS TEEQQKWVSR LVKKIPKKPP APDPFARSSP RTSMKIQQNQ SIRRPSRQLA
PNKPS*

Position of stopcodon in wt / mu CDS

3438 / 3438

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

1146 / 1146

Position of stopcodon in wt / mu cDNA

3911 / 3911

Position of start ATG in wt / mu cDNA

474 / 474

Last intron/exon boundary

3907

Theoretical NMD boundary in CDS

3383

Length of CDS

3438

Coding sequence (CDS) position

3155

cDNA position

3628

gDNA position

155815

Chromosomal position

11192516

Speed

0.10 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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