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: ENST00000369367
Querying Taster for transcript #2: ENST00000465950
Querying Taster for transcript #3: ENST00000549162
MT speed 0.87 s - this script 3.343429 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
ENST00000549162	SCAF11	Deleterious	53\|47	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000465950	SCAF11	Deleterious	56\|44	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000369367(MANE Select)	SCAF11	Benign	35\|65	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

12:45926414C>T_3_ENST00000549162

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr12:45926414C>T (GRCh38)

Gene symbol

SCAF11

Gene constraints

LOEUF: 0.39, LOF (oe): 0.29, misssense (oe): 0.91, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000549162.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2711G>A
g.65707G>A

AA changes

AAE:	R904Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs776615387
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	29	29

Protein conservation

Species	Match	AA	Alignment
Human		904	S	S	F	A	Y	K	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S	N
mutated	all conserved	904									N	E	N	Q	W	Q	N	R	K	P	L	S	G	N	S
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)	0.737	1
	4.17	1
(flanking)	1.415	0.996

?

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

12

Strand

-1

Original gDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered gDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Original cDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered cDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Wildtype AA sequence

MFSSVSHSGE SSFTYRAYCT EFIEASEISA LIRQKRHELE LSWFPDTLPG IGRIGFIPWN
VETEVLPLIS SVLPRTIFPT STISFEHFGT SCKGYALAHT QEGEEKKQTS GTSNTRGSRR
KPAMTTPTRR STRNTRAETA SQSQRSPISD NSGCDAPGNS NPSLSVPSSA ESEKQTRQAP
KRKSVRRGRK PPLLKKKLRS SVAAPEKSSS NDSVDEETAE SDTSPVLEKE HQPDVDSSNI
CTVQTHVENQ SANCLKSCNE QIEESEKHTA NYDTEERVGS SSSESCAQDL PVLVGEEGEV
KKLENTGIEA NVLCLESEIS ENILEKGGDP LEKQDQISGL SQSEVKTDVC TVHLPNDFPT
CLTSESKVYQ PVSCPLSDLS ENVESVVNEE KITESSLVEI TEHKDFTLKT EELIESPKLE
SSEGEIIQTV DRQSVKSPEV QLLGHVETED VEIIATCDTF GNEDFNNIQD SENNLLKNNL
LNTKLEKSLE EKNESLTEHP RSTELPKTHI EQIQKHFSED NNEMIPMECD SFCSDQNESE
VEPSVNADLK QMNENSVTHC SENNMPSSDL ADEKVETVSQ PSESPKDTID KTKKPRTRRS
RFHSPSTTWS PNKDTPQEKK RPQSPSPRRE TGKESRKSQS PSPKNESARG RKKSRSQSPK
KDIARERRQS QSRSPKRDTT RESRRSESLS PRRETSRENK RSQPRVKDSS PGEKSRSQSR
ERESDRDGQR RERERRTRKW SRSRSHSRSP SRCRTKSKSS SFGRIDRDSY SPRWKGRWAN
DGWRCPRGND RYRKNDPEKQ NENTRKEKND IHLDADDPNS ADKHRNDCPN WITEKINSGP
DPRTRNPEKL KESHWEENRN ENSGNSWNKN FGSGWVSNRG RGRGNRGRGT YRSSFAYKDQ
NENRWQNRKP LSGNSNSSGS ESFKFVEQQS YKRKSEQEFS FDTPADRSGW TSASSWAVRK
TLPADVQNYY SRRGRNSSGP QSGWMKQEEE TSGQDSSLKD QTNQQVDGSQ LPINMMQPQM
NVMQQQMNAQ HQPMNIFPYP VGVHAPLMNI QRNPFNIHPQ LPLHLHTGVP LMQVATPTSV
SQGLPPPPPP PPPSQQVNYI ASQPDGKQLQ GIPSSSHVSN NMSTPVLPAP TAAPGNTGMV
QGPSSGNTSS SSHSKASNAA VKLAESKVSV AVEASADSSK TDKKLQIQEK AAQEVKLAIK
PFYQNKDITK EEYKEIVRKA VDKVCHSKSG EVNSTKVANL VKAYVDKYKY SRKGSQKKTL
EEPVSTEKNI G*

Mutated AA sequence

MFSSVSHSGE SSFTYRAYCT EFIEASEISA LIRQKRHELE LSWFPDTLPG IGRIGFIPWN
VETEVLPLIS SVLPRTIFPT STISFEHFGT SCKGYALAHT QEGEEKKQTS GTSNTRGSRR
KPAMTTPTRR STRNTRAETA SQSQRSPISD NSGCDAPGNS NPSLSVPSSA ESEKQTRQAP
KRKSVRRGRK PPLLKKKLRS SVAAPEKSSS NDSVDEETAE SDTSPVLEKE HQPDVDSSNI
CTVQTHVENQ SANCLKSCNE QIEESEKHTA NYDTEERVGS SSSESCAQDL PVLVGEEGEV
KKLENTGIEA NVLCLESEIS ENILEKGGDP LEKQDQISGL SQSEVKTDVC TVHLPNDFPT
CLTSESKVYQ PVSCPLSDLS ENVESVVNEE KITESSLVEI TEHKDFTLKT EELIESPKLE
SSEGEIIQTV DRQSVKSPEV QLLGHVETED VEIIATCDTF GNEDFNNIQD SENNLLKNNL
LNTKLEKSLE EKNESLTEHP RSTELPKTHI EQIQKHFSED NNEMIPMECD SFCSDQNESE
VEPSVNADLK QMNENSVTHC SENNMPSSDL ADEKVETVSQ PSESPKDTID KTKKPRTRRS
RFHSPSTTWS PNKDTPQEKK RPQSPSPRRE TGKESRKSQS PSPKNESARG RKKSRSQSPK
KDIARERRQS QSRSPKRDTT RESRRSESLS PRRETSRENK RSQPRVKDSS PGEKSRSQSR
ERESDRDGQR RERERRTRKW SRSRSHSRSP SRCRTKSKSS SFGRIDRDSY SPRWKGRWAN
DGWRCPRGND RYRKNDPEKQ NENTRKEKND IHLDADDPNS ADKHRNDCPN WITEKINSGP
DPRTRNPEKL KESHWEENRN ENSGNSWNKN FGSGWVSNRG RGRGNRGRGT YRSSFAYKDQ
NENQWQNRKP LSGNSNSSGS ESFKFVEQQS YKRKSEQEFS FDTPADRSGW TSASSWAVRK
TLPADVQNYY SRRGRNSSGP QSGWMKQEEE TSGQDSSLKD QTNQQVDGSQ LPINMMQPQM
NVMQQQMNAQ HQPMNIFPYP VGVHAPLMNI QRNPFNIHPQ LPLHLHTGVP LMQVATPTSV
SQGLPPPPPP PPPSQQVNYI ASQPDGKQLQ GIPSSSHVSN NMSTPVLPAP TAAPGNTGMV
QGPSSGNTSS SSHSKASNAA VKLAESKVSV AVEASADSSK TDKKLQIQEK AAQEVKLAIK
PFYQNKDITK EEYKEIVRKA VDKVCHSKSG EVNSTKVANL VKAYVDKYKY SRKGSQKKTL
EEPVSTEKNI G*

Position of stopcodon in wt / mu CDS

3816 / 3816

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

1272 / 1272

Position of stopcodon in wt / mu cDNA

3934 / 3934

Position of start ATG in wt / mu cDNA

119 / 119

Last intron/exon boundary

3787

Theoretical NMD boundary in CDS

3618

Length of CDS

3816

Coding sequence (CDS) position

2711

cDNA position

2829

gDNA position

65707

Chromosomal position

45926414

Speed

0.37 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:

12:45926414C>T_2_ENST00000465950

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 56|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:45926414C>T (GRCh38)

Gene symbol

SCAF11

Gene constraints

LOEUF: 0.40, LOF (oe): 0.29, misssense (oe): 0.91, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000465950.5

Genbank transcript ID

UniProt / AlphaMissense peptide

SCAFB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2342G>A
g.65707G>A

AA changes

AAE:	R781Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs776615387
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	29	29

Protein conservation

Species	Match	AA	Alignment
Human		781	S	S	F	A	Y	K	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S	N
mutated	all conserved	781												Q	W	Q	N	R	K	P	L	S	G	N	S
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	1463	CHAIN		lost
750	1146	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.737	1
	4.17	1
(flanking)	1.415	0.996

?

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

12

Strand

-1

Original gDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered gDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Original cDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered cDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Wildtype AA sequence

MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DFNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
RWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*

Mutated AA sequence

MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DFNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
QWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*

Position of stopcodon in wt / mu CDS

3447 / 3447

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

1149 / 1149

Position of stopcodon in wt / mu cDNA

4657 / 4657

Position of start ATG in wt / mu cDNA

1211 / 1211

Last intron/exon boundary

4510

Theoretical NMD boundary in CDS

3249

Length of CDS

3447

Coding sequence (CDS) position

2342

cDNA position

3552

gDNA position

65707

Chromosomal position

45926414

Speed

0.36 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:

12:45926414C>T_1_ENST00000369367

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 35|65 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:45926414C>T (GRCh38)

Gene symbol

SCAF11

Gene constraints

LOEUF: 0.41, LOF (oe): 0.31, misssense (oe): 0.90, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000369367.8

Genbank transcript ID

NM_004719 (exact from MANE)

UniProt / AlphaMissense peptide

SCAFB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3287G>A
g.65707G>A

AA changes

AAE:	R1096Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs776615387
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	29	29

Protein conservation

Species	Match	AA	Alignment
Human		1096	S	S	F	A	Y	K	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S	N
mutated	all conserved	1096	S	S	F	A	Y	K	D	Q	N	E	N	Q	W	Q	N	R	K	P	L	S	G	N	S
Ptroglodytes	all identical	1096	S	S	F	A	Y	K	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S
Mmulatta	all identical	1097	S	G	F	A	Y	K	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S
Fcatus	all identical	1095	G	G	F	A	Y	T	D	Q	N	E	N	R	W	Q	N	R	K	P	L	S	G	N	S
Mmusculus	all identical	1119											N	R	W	Q	S	R	T	P	L	-	-	-	-
Ggallus	not conserved	1051	G	G	F	T	Y	G	D	L	S	E	N	H	W	Q	S	R	K	P	L	S	G	N	S
Trubripes	all identical	815	S	F	Y	S	Q	Q	E	E	A	E	DG	R	W	Q	H	R	-	-	-	-	N	N	S
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no homologue
Xtropicalis	not conserved	1362	G	G	L	S	C	G	D	Q	N	E	N	H	W	N	S	R	Q	P	F	S	G	N	F

Protein features

Start (aa)	End (aa)	Feature	Details
1	1463	CHAIN		lost
750	1146	REGION		lost
1086	1118	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.737	1
	4.17	1
(flanking)	1.415	0.996

?

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

12

Strand

-1

Original gDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered gDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Original cDNA sequence snippet

TAAAGATCAGAATGAAAATCGGTGGCAAAATCGAAAACCCC

Altered cDNA sequence snippet

TAAAGATCAGAATGAAAATCAGTGGCAAAATCGAAAACCCC

Wildtype AA sequence

MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDFNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENRWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*

Mutated AA sequence

MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDFNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENQWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*

Position of stopcodon in wt / mu CDS

4392 / 4392

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

1464 / 1464

Position of stopcodon in wt / mu cDNA

4635 / 4635

Position of start ATG in wt / mu cDNA

244 / 244

Last intron/exon boundary

4488

Theoretical NMD boundary in CDS

4194

Length of CDS

4392

Coding sequence (CDS) position

3287

cDNA position

3530

gDNA position

65707

Chromosomal position

45926414

Speed

0.14 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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