MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 13964 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr7:140781617C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.16, misssense (oe): 0.54, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000646891.2

Genbank transcript ID

NM_004333 (exact from MANE), NM_001378474 (by similarity), NM_001378469 (by similarity), NM_001378473 (by similarity)

UniProt / AlphaMissense peptide

BRAF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1391G>A
g.143313G>A

AA changes

AAE:	G464E	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy
Carcinoma of colon

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		464	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K	W
mutated	not conserved	464	P	D	G	Q	I	T	V	G	Q	R	I	E	S	G	S	F	G	T	V	Y	K	G	K
Ptroglodytes	all identical	464	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K
Mmulatta	all identical	460	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K
Fcatus	all identical	501	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K
Mmusculus	all identical	501	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K
Ggallus	all identical	504	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K
Trubripes	all identical	515	P	E	G	Q	I	T	L	G	Q	R	I	G	S	G	S	F	G	T	V	F	K	G	K
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	509	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K

Protein features

Start (aa)	End (aa)	Feature	Details
2	766	CHAIN		lost
457	717	DOMAIN	Protein kinase	lost
458	466	STRAND		lost
463	471	BINDING	ATP	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.475	1
	7.886	1
(flanking)	7.886	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

7

Strand

-1

Original gDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered gDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Original cDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered cDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Wildtype AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA TPPASLPGSL TNVKALQKSP
GPQRERKSSS SSEDRNRMKT LGRRDSSDDW EIPDGQITVG QRIGSGSFGT VYKGKWHGDV
AVKMLNVTAP TPQQLQAFKN EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH
LHIIETKFEM IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV
KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN
NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS
LPKIHRSASE PSLNRAGFQT EDFSLYACAS PKTPIQAGGY GAFPVH*

Mutated AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA TPPASLPGSL TNVKALQKSP
GPQRERKSSS SSEDRNRMKT LGRRDSSDDW EIPDGQITVG QRIESGSFGT VYKGKWHGDV
AVKMLNVTAP TPQQLQAFKN EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH
LHIIETKFEM IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV
KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN
NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS
LPKIHRSASE PSLNRAGFQT EDFSLYACAS PKTPIQAGGY GAFPVH*

Position of stopcodon in wt / mu CDS

2301 / 2301

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

767 / 767

Position of stopcodon in wt / mu cDNA

2527 / 2527

Position of start ATG in wt / mu cDNA

227 / 227

Last intron/exon boundary

2353

Theoretical NMD boundary in CDS

2076

Length of CDS

2301

Coding sequence (CDS) position

1391

cDNA position

1617

gDNA position

143313

Chromosomal position

140781617

Speed

0.05 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

MutationT@ster 2025

Variant:

7:140781617C>T_1_ENST00000496384

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 13964 (pathogenic)

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr7:140781617C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.55, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000496384.7

Genbank transcript ID

NM_001378470 (by similarity), NM_001378475 (by similarity), NM_001378471 (by similarity), NM_001378468 (by similarity), NM_001354609 (by similarity), NM_001378467 (by similarity), NM_001378472 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1391G>A
g.143313G>A

AA changes

AAE:	G464E	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy
Carcinoma of colon

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		464	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K	W
mutated	not conserved	464	P	D	G	Q	I	T	V	G	Q	R	I	E	S	G	S	F	G	T	V	Y	K	G	K
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)	0.475	1
	7.886	1
(flanking)	7.886	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

7

Strand

-1

Original gDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered gDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Original cDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered cDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Wildtype AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA TPPASLPGSL TNVKALQKSP
GPQRERKSSS SSEDRNRMKT LGRRDSSDDW EIPDGQITVG QRIGSGSFGT VYKGKWHGDV
AVKMLNVTAP TPQQLQAFKN EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH
LHIIETKFEM IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV
KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN
NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS
LPKIHRSASE PSLNRAGFQT EDFSLYACAS PKTPIQAGGY GEFAAFK*

Mutated AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA TPPASLPGSL TNVKALQKSP
GPQRERKSSS SSEDRNRMKT LGRRDSSDDW EIPDGQITVG QRIESGSFGT VYKGKWHGDV
AVKMLNVTAP TPQQLQAFKN EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH
LHIIETKFEM IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV
KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN
NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS
LPKIHRSASE PSLNRAGFQT EDFSLYACAS PKTPIQAGGY GEFAAFK*

Position of stopcodon in wt / mu CDS

2304 / 2304

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

768 / 768

Position of stopcodon in wt / mu cDNA

2411 / 2411

Position of start ATG in wt / mu cDNA

108 / 108

Last intron/exon boundary

2388

Theoretical NMD boundary in CDS

2230

Length of CDS

2304

Coding sequence (CDS) position

1391

cDNA position

1498

gDNA position

143313

Chromosomal position

140781617

Speed

0.05 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

MutationT@ster 2025

Variant:

7:140781617C>T_2_ENST00000644969

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 13964 (pathogenic)

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr7:140781617C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.55, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000644969.2

Genbank transcript ID

NM_001374258 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1511G>A
g.143313G>A

AA changes

AAE:	G504E	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy
Carcinoma of colon

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		504	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K	W
mutated	not conserved	504	P	D	G	Q	I	T	V	G	Q	R	I	E	S	G	S	F	G	T	V	Y	K	G	K
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)	0.475	1
	7.886	1
(flanking)	7.886	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

7

Strand

-1

Original gDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered gDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Original cDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered cDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Wildtype AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGAPLNQLMR CLRKYQSRTP SPLLHSVPSE
IVFDFEPGPV FRGSTTGLSA TPPASLPGSL TNVKALQKSP GPQRERKSSS SSEDRNRMKT
LGRRDSSDDW EIPDGQITVG QRIGSGSFGT VYKGKWHGDV AVKMLNVTAP TPQQLQAFKN
EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH LHIIETKFEM IKLIDIARQT
AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV KSRWSGSHQF EQLSGSILWM
APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN NRDQIIFMVG RGYLSPDLSK
VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS LPKIHRSASE PSLNRAGFQT
EDFSLYACAS PKTPIQAGGY GEFAAFK*

Mutated AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGAPLNQLMR CLRKYQSRTP SPLLHSVPSE
IVFDFEPGPV FRGSTTGLSA TPPASLPGSL TNVKALQKSP GPQRERKSSS SSEDRNRMKT
LGRRDSSDDW EIPDGQITVG QRIESGSFGT VYKGKWHGDV AVKMLNVTAP TPQQLQAFKN
EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH LHIIETKFEM IKLIDIARQT
AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV KSRWSGSHQF EQLSGSILWM
APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN NRDQIIFMVG RGYLSPDLSK
VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS LPKIHRSASE PSLNRAGFQT
EDFSLYACAS PKTPIQAGGY GEFAAFK*

Position of stopcodon in wt / mu CDS

2424 / 2424

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

808 / 808

Position of stopcodon in wt / mu cDNA

2650 / 2650

Position of start ATG in wt / mu cDNA

227 / 227

Last intron/exon boundary

2627

Theoretical NMD boundary in CDS

2350

Length of CDS

2424

Coding sequence (CDS) position

1511

cDNA position

1737

gDNA position

143313

Chromosomal position

140781617

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

MutationT@ster 2025

Variant:

7:140781617C>T_4_ENST00000288602

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 13964 (pathogenic)

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr7:140781617C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.16, misssense (oe): 0.54, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000288602.11

Genbank transcript ID

NM_001374244 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1511G>A
g.143313G>A

AA changes

AAE:	G504E	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy
Carcinoma of colon

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		504	P	D	G	Q	I	T	V	G	Q	R	I	G	S	G	S	F	G	T	V	Y	K	G	K	W
mutated	not conserved	504	P	D	G	Q	I	T	V	G	Q	R	I	E	S	G	S	F	G	T	V	Y	K	G	K
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)	0.475	1
	7.886	1
(flanking)	7.886	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

7

Strand

-1

Original gDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered gDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Original cDNA sequence snippet

TACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAG

Altered cDNA sequence snippet

TACAGTGGGACAAAGAATTGAATCTGGATCATTTGGAACAG

Wildtype AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGAPLNQLMR CLRKYQSRTP SPLLHSVPSE
IVFDFEPGPV FRGSTTGLSA TPPASLPGSL TNVKALQKSP GPQRERKSSS SSEDRNRMKT
LGRRDSSDDW EIPDGQITVG QRIGSGSFGT VYKGKWHGDV AVKMLNVTAP TPQQLQAFKN
EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH LHIIETKFEM IKLIDIARQT
AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV KSRWSGSHQF EQLSGSILWM
APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN NRDQIIFMVG RGYLSPDLSK
VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS LPKIHRSASE PSLNRAGFQT
EDFSLYACAS PKTPIQAGGY GAFPVH*

Mutated AA sequence

MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH
IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV
TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS
LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK
TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI
PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR
DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGAPLNQLMR CLRKYQSRTP SPLLHSVPSE
IVFDFEPGPV FRGSTTGLSA TPPASLPGSL TNVKALQKSP GPQRERKSSS SSEDRNRMKT
LGRRDSSDDW EIPDGQITVG QRIESGSFGT VYKGKWHGDV AVKMLNVTAP TPQQLQAFKN
EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH LHIIETKFEM IKLIDIARQT
AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV KSRWSGSHQF EQLSGSILWM
APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN NRDQIIFMVG RGYLSPDLSK
VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS LPKIHRSASE PSLNRAGFQT
EDFSLYACAS PKTPIQAGGY GAFPVH*

Position of stopcodon in wt / mu CDS

2421 / 2421

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

807 / 807

Position of stopcodon in wt / mu cDNA

2450 / 2450

Position of start ATG in wt / mu cDNA

30 / 30

Last intron/exon boundary

2276

Theoretical NMD boundary in CDS

2196

Length of CDS

2421

Coding sequence (CDS) position

1511

cDNA position

1540

gDNA position

143313

Chromosomal position

140781617

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