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: ENST00000642122
Querying Taster for transcript #2: ENST00000389048
Querying Taster for transcript #3: ENST00000618119
MT speed 1.14 s - this script 3.567072 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000389048(MANE Select)	ALK	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000618119	ALK	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000642122	ALK	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

2:29209808C>T_2_ENST00000389048

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:29209808C>T (GRCh38)

Gene symbol

ALK

Gene constraints

LOEUF: 0.56, LOF (oe): 0.46, misssense (oe): 0.94, synonymous (oe): 1.09 ? (gnomAD)

Ensembl transcript ID

ENST00000389048.8

Genbank transcript ID

NM_004304 (exact from MANE)

UniProt / AlphaMissense peptide

ALK_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3814G>A
g.711779G>A

AA changes

AAE:	G1272R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770027238
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	5	5

Protein conservation

Species	Match	AA	Alignment
Human		1272	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y	R
mutated	not conserved	1272	G	P	G	R	V	A	K	I	G	D	F	R	M	A	R	D	I	Y	R	A	S	Y	Y
Ptroglodytes	all identical	1272	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Mmulatta	all identical	1272	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Fcatus	all identical	935	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Mmusculus	all identical	1276	G	A	G	R	I	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Ggallus	all identical	1258										D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Trubripes	all identical	1277	G	A	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	1351	G	S	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y

Protein features

Start (aa)	End (aa)	Feature	Details
19	1620	CHAIN		lost
1060	1620	TOPO_DOM	Cytoplasmic	lost
1116	1392	DOMAIN	Protein kinase	lost
1272	1280	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.899	1
	7.899	1
(flanking)	0.169	0.891

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

2

Strand

-1

Original gDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered gDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Original cDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered cDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Wildtype AA sequence

MGAIGLLWLL PLLLSTAAVG SGMGTGQRAG SPAAGPPLQP REPLSYSRLQ RKSLAVDFVV
PSLFRVYARD LLLPPSSSEL KAGRPEARGS LALDCAPLLR LLGPAPGVSW TAGSPAPAEA
RTLSRVLKGG SVRKLRRAKQ LVLELGEEAI LEGCVGPPGE AAVGLLQFNL SELFSWWIRQ
GEGRLRIRLM PEKKASEVGR EGRLSAAIRA SQPRLLFQIF GTGHSSLESP TNMPSPSPDY
FTWNLTWIMK DSFPFLSHRS RYGLECSFDF PCELEYSPPL HDLRNQSWSW RRIPSEEASQ
MDLLDGPGAE RSKEMPRGSF LLLNTSADSK HTILSPWMRS SSEHCTLAVS VHRHLQPSGR
YIAQLLPHNE AAREILLMPT PGKHGWTVLQ GRIGRPDNPF RVALEYISSG NRSLSAVDFF
ALKNCSEGTS PGSKMALQSS FTCWNGTVLQ LGQACDFHQD CAQGEDESQM CRKLPVGFYC
NFEDGFCGWT QGTLSPHTPQ WQVRTLKDAR FQDHQDHALL LSTTDVPASE SATVTSATFP
APIKSSPCEL RMSWLIRGVL RGNVSLVLVE NKTGKEQGRM VWHVAAYEGL SLWQWMVLPL
LDVSDRFWLQ MVAWWGQGSR AIVAFDNISI SLDCYLTISG EDKILQNTAP KSRNLFERNP
NKELKPGENS PRQTPIFDPT VHWLFTTCGA SGPHGPTQAQ CNNAYQNSNL SVEVGSEGPL
KGIQIWKVPA TDTYSISGYG AAGGKGGKNT MMRSHGVSVL GIFNLEKDDM LYILVGQQGE
DACPSTNQLI QKVCIGENNV IEEEIRVNRS VHEWAGGGGG GGGATYVFKM KDGVPVPLII
AAGGGGRAYG AKTDTFHPER LENNSSVLGL NGNSGAAGGG GGWNDNTSLL WAGKSLQEGA
TGGHSCPQAM KKWGWETRGG FGGGGGGCSS GGGGGGYIGG NAASNNDPEM DGEDGVSFIS
PLGILYTPAL KVMEGHGEVN IKHYLNCSHC EVDECHMDPE SHKVICFCDH GTVLAEDGVS
CIVSPTPEPH LPLSLILSVV TSALVAALVL AFSGIMIVYR RKHQELQAMQ MELQSPEYKL
SKLRTSTIMT DYNPNYCFAG KTSSISDLKE VPRKNITLIR GLGHGAFGEV YEGQVSGMPN
DPSPLQVAVK TLPEVCSEQD ELDFLMEALI ISKFNHQNIV RCIGVSLQSL PRFILLELMA
GGDLKSFLRE TRPRPSQPSS LAMLDLLHVA RDIACGCQYL EENHFIHRDI AARNCLLTCP
GPGRVAKIGD FGMARDIYRA SYYRKGGCAM LPVKWMPPEA FMEGIFTSKT DTWSFGVLLW
EIFSLGYMPY PSKSNQEVLE FVTSGGRMDP PKNCPGPVYR IMTQCWQHQP EDRPNFAIIL
ERIEYCTQDP DVINTALPIE YGPLVEEEEK VPVRPKDPEG VPPLLVSQQA KREEERSPAA
PPPLPTTSSG KAAKKPTAAE ISVRVPRGPA VEGGHVNMAF SQSNPPSELH KVHGSRNKPT
SLWNPTYGSW FTEKPTKKNN PIAKKEPHDR GNLGLEGSCT VPPNVATGRL PGASLLLEPS
SLTANMKEVP LFRLRHFPCG NVNYGYQQQG LPLEAATAPG AGHYEDTILK SKNSMNQPGP
*

Mutated AA sequence

MGAIGLLWLL PLLLSTAAVG SGMGTGQRAG SPAAGPPLQP REPLSYSRLQ RKSLAVDFVV
PSLFRVYARD LLLPPSSSEL KAGRPEARGS LALDCAPLLR LLGPAPGVSW TAGSPAPAEA
RTLSRVLKGG SVRKLRRAKQ LVLELGEEAI LEGCVGPPGE AAVGLLQFNL SELFSWWIRQ
GEGRLRIRLM PEKKASEVGR EGRLSAAIRA SQPRLLFQIF GTGHSSLESP TNMPSPSPDY
FTWNLTWIMK DSFPFLSHRS RYGLECSFDF PCELEYSPPL HDLRNQSWSW RRIPSEEASQ
MDLLDGPGAE RSKEMPRGSF LLLNTSADSK HTILSPWMRS SSEHCTLAVS VHRHLQPSGR
YIAQLLPHNE AAREILLMPT PGKHGWTVLQ GRIGRPDNPF RVALEYISSG NRSLSAVDFF
ALKNCSEGTS PGSKMALQSS FTCWNGTVLQ LGQACDFHQD CAQGEDESQM CRKLPVGFYC
NFEDGFCGWT QGTLSPHTPQ WQVRTLKDAR FQDHQDHALL LSTTDVPASE SATVTSATFP
APIKSSPCEL RMSWLIRGVL RGNVSLVLVE NKTGKEQGRM VWHVAAYEGL SLWQWMVLPL
LDVSDRFWLQ MVAWWGQGSR AIVAFDNISI SLDCYLTISG EDKILQNTAP KSRNLFERNP
NKELKPGENS PRQTPIFDPT VHWLFTTCGA SGPHGPTQAQ CNNAYQNSNL SVEVGSEGPL
KGIQIWKVPA TDTYSISGYG AAGGKGGKNT MMRSHGVSVL GIFNLEKDDM LYILVGQQGE
DACPSTNQLI QKVCIGENNV IEEEIRVNRS VHEWAGGGGG GGGATYVFKM KDGVPVPLII
AAGGGGRAYG AKTDTFHPER LENNSSVLGL NGNSGAAGGG GGWNDNTSLL WAGKSLQEGA
TGGHSCPQAM KKWGWETRGG FGGGGGGCSS GGGGGGYIGG NAASNNDPEM DGEDGVSFIS
PLGILYTPAL KVMEGHGEVN IKHYLNCSHC EVDECHMDPE SHKVICFCDH GTVLAEDGVS
CIVSPTPEPH LPLSLILSVV TSALVAALVL AFSGIMIVYR RKHQELQAMQ MELQSPEYKL
SKLRTSTIMT DYNPNYCFAG KTSSISDLKE VPRKNITLIR GLGHGAFGEV YEGQVSGMPN
DPSPLQVAVK TLPEVCSEQD ELDFLMEALI ISKFNHQNIV RCIGVSLQSL PRFILLELMA
GGDLKSFLRE TRPRPSQPSS LAMLDLLHVA RDIACGCQYL EENHFIHRDI AARNCLLTCP
GPGRVAKIGD FRMARDIYRA SYYRKGGCAM LPVKWMPPEA FMEGIFTSKT DTWSFGVLLW
EIFSLGYMPY PSKSNQEVLE FVTSGGRMDP PKNCPGPVYR IMTQCWQHQP EDRPNFAIIL
ERIEYCTQDP DVINTALPIE YGPLVEEEEK VPVRPKDPEG VPPLLVSQQA KREEERSPAA
PPPLPTTSSG KAAKKPTAAE ISVRVPRGPA VEGGHVNMAF SQSNPPSELH KVHGSRNKPT
SLWNPTYGSW FTEKPTKKNN PIAKKEPHDR GNLGLEGSCT VPPNVATGRL PGASLLLEPS
SLTANMKEVP LFRLRHFPCG NVNYGYQQQG LPLEAATAPG AGHYEDTILK SKNSMNQPGP
*

Position of stopcodon in wt / mu CDS

4863 / 4863

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

1621 / 1621

Position of stopcodon in wt / mu cDNA

5790 / 5790

Position of start ATG in wt / mu cDNA

928 / 928

Last intron/exon boundary

5091

Theoretical NMD boundary in CDS

4113

Length of CDS

4863

Coding sequence (CDS) position

3814

cDNA position

4741

gDNA position

711779

Chromosomal position

29209808

Speed

0.46 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:

2:29209808C>T_3_ENST00000618119

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr2:29209808C>T (GRCh38)

Gene symbol

ALK

Gene constraints

LOEUF: 0.58, LOF (oe): 0.47, misssense (oe): 0.89, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000618119.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2683G>A
g.711779G>A

AA changes

AAE:	G895R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770027238
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	5	5

Protein conservation

Species	Match	AA	Alignment
Human		895	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y	R
mutated	not conserved	895	G	P	G	R	V	A	K	I	G	D	F	R	M	A	R	D	I
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)	7.899	1
	7.899	1
(flanking)	0.169	0.891

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

2

Strand

-1

Original gDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered gDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Original cDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered cDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Wildtype AA sequence

MPTPGKHGWT VLQGRIGRPD NPFRVALEYI SSGNRSLSAV DFFALKNCSE GTSPGSKMAL
QSSFTCWNGT VLQLGQACDF HQDCAQGEDE SQMCRKLPVG FYCNFEDGFC GWTQGTLSPH
TPQWQVRTLK DARFQDHQDH ALLLSTTDVP ASESATVTSA TFPAPIKSSP CELRMSWLIR
GVLRGNVSLV LVENKTGKEQ GRMVWHVAAY EGLSLWQWMV LPLLDVSDRF WLQMVAWWGQ
GSRAIVAFDN ISISLDCYLT ISGEDKILQN TAPKSRNLFE RNPNKELKPG ENSPRQTPIF
DPTVHWLFTT CGASGPHGPT QAQCNNAYQN SNLSVEVGSE GPLKGIQIWK VPATDTYSIS
GYGAAGGKGG KNTMMRSHGV SVLGIFNLEK DDMLYILVGQ QGEDACPSTN QLIQKVCIGE
NNVIEEEIRV NRSVHEWAGG GGGGGGATYV FKMKDGVPVP LIIAAGGGGR AYGAKTDTFH
PERLENNSSV LGLNGNSGAA GGGGGWNDNT SLLWAGKSLQ EGATGGHSCP QAMKKWGWET
RGGFGGGGGG CSSGGGGGGY IGGNAASNND PEMDGEDGVS FISPLGILYT PALKVMEGHG
EVNIKHYLNC SHCEVDECHM DPESHKVICF CDHGTVLAED GVSCIVSPTP EPHLPLSLIL
SVVTSALVAA LVLAFSGIMI VYRRKHQELQ AMQMELQSPE YKLSKLRTST IMTDYNPNYC
FAGKTSSISD LKEVPRKNIT LIRGLGHGAF GEVYEGQVSG MPNDPSPLQV AVKTLPEVCS
EQDELDFLME ALIISKFNHQ NIVRCIGVSL QSLPRFILLE LMAGGDLKSF LRETRPRPSQ
PSSLAMLDLL HVARDIACGC QYLEENHFIH RDIAARNCLL TCPGPGRVAK IGDFGMARDI
YRASYYRKGG CAMLPVKWMP PEAFMEGIFT SKTDTWSFGV LLWEIFSLGY MPYPSKSNQE
VLEFVTSGGR MDPPKNCPGP VYRIMTQCWQ HQPEDRPNFA IILERIEYCT QDPDVINTAL
PIEYGPLVEE EEKVPVRPKD PEGVPPLLVS QQAKREEERS PAAPPPLPTT SSGKAAKKPT
AAEISVRVPR GPAVEGGHVN MAFSQSNPPS ELHKVHGSRN KPTSLWNPTY GSWFTEKPTK
KNNPIAKKEP HDRGNLGLEG SCTVPPNVAT GRLPGASLLL EPSSLTANMK EVPLFRLRHF
PCGNVNYGYQ QQGLPLEAAT APGAGHYEDT ILKSKNSMNQ PGP*

Mutated AA sequence

MPTPGKHGWT VLQGRIGRPD NPFRVALEYI SSGNRSLSAV DFFALKNCSE GTSPGSKMAL
QSSFTCWNGT VLQLGQACDF HQDCAQGEDE SQMCRKLPVG FYCNFEDGFC GWTQGTLSPH
TPQWQVRTLK DARFQDHQDH ALLLSTTDVP ASESATVTSA TFPAPIKSSP CELRMSWLIR
GVLRGNVSLV LVENKTGKEQ GRMVWHVAAY EGLSLWQWMV LPLLDVSDRF WLQMVAWWGQ
GSRAIVAFDN ISISLDCYLT ISGEDKILQN TAPKSRNLFE RNPNKELKPG ENSPRQTPIF
DPTVHWLFTT CGASGPHGPT QAQCNNAYQN SNLSVEVGSE GPLKGIQIWK VPATDTYSIS
GYGAAGGKGG KNTMMRSHGV SVLGIFNLEK DDMLYILVGQ QGEDACPSTN QLIQKVCIGE
NNVIEEEIRV NRSVHEWAGG GGGGGGATYV FKMKDGVPVP LIIAAGGGGR AYGAKTDTFH
PERLENNSSV LGLNGNSGAA GGGGGWNDNT SLLWAGKSLQ EGATGGHSCP QAMKKWGWET
RGGFGGGGGG CSSGGGGGGY IGGNAASNND PEMDGEDGVS FISPLGILYT PALKVMEGHG
EVNIKHYLNC SHCEVDECHM DPESHKVICF CDHGTVLAED GVSCIVSPTP EPHLPLSLIL
SVVTSALVAA LVLAFSGIMI VYRRKHQELQ AMQMELQSPE YKLSKLRTST IMTDYNPNYC
FAGKTSSISD LKEVPRKNIT LIRGLGHGAF GEVYEGQVSG MPNDPSPLQV AVKTLPEVCS
EQDELDFLME ALIISKFNHQ NIVRCIGVSL QSLPRFILLE LMAGGDLKSF LRETRPRPSQ
PSSLAMLDLL HVARDIACGC QYLEENHFIH RDIAARNCLL TCPGPGRVAK IGDFRMARDI
YRASYYRKGG CAMLPVKWMP PEAFMEGIFT SKTDTWSFGV LLWEIFSLGY MPYPSKSNQE
VLEFVTSGGR MDPPKNCPGP VYRIMTQCWQ HQPEDRPNFA IILERIEYCT QDPDVINTAL
PIEYGPLVEE EEKVPVRPKD PEGVPPLLVS QQAKREEERS PAAPPPLPTT SSGKAAKKPT
AAEISVRVPR GPAVEGGHVN MAFSQSNPPS ELHKVHGSRN KPTSLWNPTY GSWFTEKPTK
KNNPIAKKEP HDRGNLGLEG SCTVPPNVAT GRLPGASLLL EPSSLTANMK EVPLFRLRHF
PCGNVNYGYQ QQGLPLEAAT APGAGHYEDT ILKSKNSMNQ PGP*

Position of stopcodon in wt / mu CDS

3732 / 3732

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

1244 / 1244

Position of stopcodon in wt / mu cDNA

4199 / 4199

Position of start ATG in wt / mu cDNA

468 / 468

Last intron/exon boundary

3500

Theoretical NMD boundary in CDS

2982

Length of CDS

3732

Coding sequence (CDS) position

2683

cDNA position

3150

gDNA position

711779

Chromosomal position

29209808

Speed

0.41 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:

2:29209808C>T_1_ENST00000642122

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:29209808C>T (GRCh38)

Gene symbol

ALK

Gene constraints

LOEUF: 0.64, LOF (oe): 0.44, misssense (oe): 0.90, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000642122.1

Genbank transcript ID

NM_001353765 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.610G>A
g.711779G>A

AA changes

AAE:	G204R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs770027238
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	5	5

Protein conservation

Species	Match	AA	Alignment
Human		204	G	P	G	R	V	A	K	I	G	D	F	G	M	A	R	D	I	Y	R	A	S	Y	Y	R
mutated	not conserved	204	G	P	G	R	V	A	K	I	G	D	F	R	M	A	R	D	I	Y	R	A	S	Y	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.899	1
	7.899	1
(flanking)	0.169	0.891

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

2

Strand

-1

Original gDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered gDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Original cDNA sequence snippet

TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTAC

Altered cDNA sequence snippet

TGGCCAAGATTGGAGACTTCAGGATGGCCCGAGACATCTAC

Wildtype AA sequence

MQMELQSPEY KLSKLRTSTI MTDYNPNYCF AGKTSSISDL KEVPRKNITL IRGLGHGAFG
EVYEGQVSGM PNDPSPLQVA VKTLPEVCSE QDELDFLMEA LIISKFNHQN IVRCIGVSLQ
SLPRFILLEL MAGGDLKSFL RETRPRPSQP SSLAMLDLLH VARDIACGCQ YLEENHFIHR
DIAARNCLLT CPGPGRVAKI GDFGMARDIY RASYYRKGGC AMLPVKWMPP EAFMEGIFTS
KTDTWSFGVL LWEIFSLGYM PYPSKSNQEV LEFVTSGGRM DPPKNCPGPV YRIMTQCWQH
QPEDRPNFAI ILERIEYCTQ DPDVINTALP IEYGPLVEEE EKVPVRPKDP EGVPPLLVSQ
QAKREEERSP AAPPPLPTTS SGKAAKKPTA AEISVRVPRG PAVEGGHVNM AFSQSNPPSE
LHKVHGSRNK PTSLWNPTYG SWFTEKPTKK NNPIAKKEPH DRGNLGLEGS CTVPPNVATG
RLPGASLLLE PSSLTANMKE VPLFRLRHFP CGNVNYGYQQ QGLPLEAATA PGAGHYEDTI
LKSKNSMNQP GP*

Mutated AA sequence

MQMELQSPEY KLSKLRTSTI MTDYNPNYCF AGKTSSISDL KEVPRKNITL IRGLGHGAFG
EVYEGQVSGM PNDPSPLQVA VKTLPEVCSE QDELDFLMEA LIISKFNHQN IVRCIGVSLQ
SLPRFILLEL MAGGDLKSFL RETRPRPSQP SSLAMLDLLH VARDIACGCQ YLEENHFIHR
DIAARNCLLT CPGPGRVAKI GDFRMARDIY RASYYRKGGC AMLPVKWMPP EAFMEGIFTS
KTDTWSFGVL LWEIFSLGYM PYPSKSNQEV LEFVTSGGRM DPPKNCPGPV YRIMTQCWQH
QPEDRPNFAI ILERIEYCTQ DPDVINTALP IEYGPLVEEE EKVPVRPKDP EGVPPLLVSQ
QAKREEERSP AAPPPLPTTS SGKAAKKPTA AEISVRVPRG PAVEGGHVNM AFSQSNPPSE
LHKVHGSRNK PTSLWNPTYG SWFTEKPTKK NNPIAKKEPH DRGNLGLEGS CTVPPNVATG
RLPGASLLLE PSSLTANMKE VPLFRLRHFP CGNVNYGYQQ QGLPLEAATA PGAGHYEDTI
LKSKNSMNQP GP*

Position of stopcodon in wt / mu CDS

1659 / 1659

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

553 / 553

Position of stopcodon in wt / mu cDNA

2063 / 2063

Position of start ATG in wt / mu cDNA

405 / 405

Last intron/exon boundary

1364

Theoretical NMD boundary in CDS

909

Length of CDS

1659

Coding sequence (CDS) position

610

cDNA position

1014

gDNA position

711779

Chromosomal position

29209808

Speed

0.27 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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