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: ENST00000439476
Querying Taster for transcript #2: ENST00000418212
Querying Taster for transcript #3: ENST00000533246
Querying Taster for transcript #4: ENST00000530861
Querying Taster for transcript #5: ENST00000395983
Querying Taster for transcript #6: ENST00000438929
Querying Taster for transcript #7: ENST00000532997
Querying Taster for transcript #8: ENST00000395981
Querying Taster for transcript #9: ENST00000395978
Querying Taster for transcript #10: ENST00000525950
Querying Taster for transcript #11: ENST00000314915
Querying Taster for transcript #12: ENST00000525528
Querying Taster for transcript #13: ENST00000395986
Querying Taster for transcript #14: ENST00000533131
Querying Taster for transcript #15: ENST00000356660
MT speed 1.45 s - this script 3.993376 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000438929	BDNF	Deleterious	63\|37	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000314915	BDNF	Deleterious	70\|30	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000356660(MANE Select)	BDNF	Deleterious	71\|29	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000439476	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000418212	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000533246	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000530861	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395983	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000532997	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395981	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395978	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000525950	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000525528	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395986	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000533131	BDNF	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:27658369C>A_6_ENST00000438929

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 63|37 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.54, LOF (oe): 0.30, misssense (oe): 0.67, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000438929.5

Genbank transcript ID

NM_001143810 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.442G>T
g.63690G>T

AA changes

AAE:	V148L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		148	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	148	G	L	T	S	L	A	D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	247	CHAIN	lost
129	247	CHAIN	lost
143	149	STRAND	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV
SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR
THGTLESVNG PKAGSRGLTS LADTFEHVIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS
QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD
MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL
TMDSKKRIGW RFIRIDTSCV CTLTIKRGR*

Mutated AA sequence

MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV
SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR
THGTLESVNG PKAGSRGLTS LADTFEHLIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS
QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD
MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL
TMDSKKRIGW RFIRIDTSCV CTLTIKRGR*

Position of stopcodon in wt / mu CDS

990 / 990

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

330 / 330

Position of stopcodon in wt / mu cDNA

1131 / 1131

Position of start ATG in wt / mu cDNA

142 / 142

Last intron/exon boundary

366

Theoretical NMD boundary in CDS

174

Length of CDS

990

Coding sequence (CDS) position

442

cDNA position

583

gDNA position

63690

Chromosomal position

27658369

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

Back to summary table

MutationT@ster 2025

Variant:

11:27658369C>A_11_ENST00000314915

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 70|30 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.20, LOF (oe): 0.04, misssense (oe): 0.59, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000314915.6

Genbank transcript ID

NM_170731 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.220G>T
g.63690G>T

AA changes

AAE:	V74L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		74	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	74	G	L	T	S	L	A	D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG
SRGLTSLADT FEHVIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE
YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV
SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR
IDTSCVCTLT IKRGR*

Mutated AA sequence

MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG
SRGLTSLADT FEHLIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE
YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV
SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR
IDTSCVCTLT IKRGR*

Position of stopcodon in wt / mu CDS

768 / 768

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

256 / 256

Position of stopcodon in wt / mu cDNA

1412 / 1412

Position of start ATG in wt / mu cDNA

645 / 645

Last intron/exon boundary

647

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

768

Coding sequence (CDS) position

220

cDNA position

864

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_15_ENST00000356660

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000356660.9

Genbank transcript ID

NM_001709 (exact from MANE), NM_001143813 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
Ptroglodytes	all identical	148							D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V
Mmulatta	all identical	148							D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V
Fcatus	all identical	74							D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	G
Mmusculus	all identical	108					L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V
Ggallus	all identical	170							D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	D	I
Trubripes	all identical	70	GD	L	P	S	L	T	D	T	F	E	Q	V	I	E	E	L	L	E	V	-	-	-	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	75						T	D	T	F	E	H	V	I	E	E	L	M	E	E	E	Q	S	I

Protein features

Start (aa)	End (aa)	Feature	Details
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1057 / 1057

Position of start ATG in wt / mu cDNA

314 / 314

Last intron/exon boundary

292

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

509

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_1_ENST00000439476

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000439476.6

Genbank transcript ID

NM_001143816 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1604 / 1604

Position of start ATG in wt / mu cDNA

861 / 861

Last intron/exon boundary

839

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

1056

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_2_ENST00000418212

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000418212.5

Genbank transcript ID

NM_001143814 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1197 / 1197

Position of start ATG in wt / mu cDNA

454 / 454

Last intron/exon boundary

432

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

649

gDNA position

63690

Chromosomal position

27658369

Speed

0.11 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:

11:27658369C>A_3_ENST00000533246

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000533246.5

Genbank transcript ID

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1072 / 1072

Position of start ATG in wt / mu cDNA

329 / 329

Last intron/exon boundary

307

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

524

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_4_ENST00000530861

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000530861.5

Genbank transcript ID

NM_001143812 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

990 / 990

Position of start ATG in wt / mu cDNA

247 / 247

Last intron/exon boundary

225

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

442

gDNA position

63690

Chromosomal position

27658369

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

Back to summary table

MutationT@ster 2025

Variant:

11:27658369C>A_5_ENST00000395983

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000395983.7

Genbank transcript ID

NM_001143808 (by similarity), NM_001143809 (by similarity), NM_001143811 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

848 / 848

Position of start ATG in wt / mu cDNA

105 / 105

Last intron/exon boundary

83

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

300

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_7_ENST00000532997

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000532997.5

Genbank transcript ID

NM_001143807 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1002 / 1002

Position of start ATG in wt / mu cDNA

259 / 259

Last intron/exon boundary

237

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

454

gDNA position

63690

Chromosomal position

27658369

Speed

0.11 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:

11:27658369C>A_8_ENST00000395981

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000395981.7

Genbank transcript ID

NM_170732 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1143 / 1143

Position of start ATG in wt / mu cDNA

400 / 400

Last intron/exon boundary

378

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

595

gDNA position

63690

Chromosomal position

27658369

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

Back to summary table

MutationT@ster 2025

Variant:

11:27658369C>A_9_ENST00000395978

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000395978.7

Genbank transcript ID

NM_001143806 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1060 / 1060

Position of start ATG in wt / mu cDNA

317 / 317

Last intron/exon boundary

295

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

512

gDNA position

63690

Chromosomal position

27658369

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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MutationT@ster 2025

Variant:

11:27658369C>A_10_ENST00000525950

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000525950.5

Genbank transcript ID

NM_001143805 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

901 / 901

Position of start ATG in wt / mu cDNA

158 / 158

Last intron/exon boundary

136

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

353

gDNA position

63690

Chromosomal position

27658369

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

Back to summary table

MutationT@ster 2025

Variant:

11:27658369C>A_12_ENST00000525528

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000525528.1

Genbank transcript ID

NM_170733 (by similarity), NM_170735 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

1838 / 1838

Position of start ATG in wt / mu cDNA

1095 / 1095

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

1290

gDNA position

63690

Chromosomal position

27658369

Speed

0.11 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:

11:27658369C>A_13_ENST00000395986

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.52, LOF (oe): 0.28, misssense (oe): 0.61, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000395986.6

Genbank transcript ID

NM_170734 (by similarity)

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.241G>T
g.63690G>T

AA changes

AAE:	V81L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		81	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	81	G	L	T	S	L	A	D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES
VNGPKAGSRG LTSLADTFEH VIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP
LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT
VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR
IGWRFIRIDT SCVCTLTIKR GR*

Mutated AA sequence

MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES
VNGPKAGSRG LTSLADTFEH LIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP
LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT
VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR
IGWRFIRIDT SCVCTLTIKR GR*

Position of stopcodon in wt / mu CDS

789 / 789

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

263 / 263

Position of stopcodon in wt / mu cDNA

1051 / 1051

Position of start ATG in wt / mu cDNA

263 / 263

Last intron/exon boundary

286

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

789

Coding sequence (CDS) position

241

cDNA position

503

gDNA position

63690

Chromosomal position

27658369

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:

11:27658369C>A_14_ENST00000533131

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:27658369C>A (GRCh38)

Gene symbol

BDNF

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000533131.5

Genbank transcript ID

UniProt / AlphaMissense peptide

BDNF_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.196G>T
g.63690G>T

AA changes

AAE:	V66L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		66	G	L	T	S	L	A	D	T	F	E	H	V	I	E	E	L	L	D	E	D	Q	K	V	R
mutated	all conserved	66							D	T	F	E	H	L	I	E	E	L	L	D	E	D	Q	K	V
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
19	128	PROPEP		lost
19	247	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.355	1
	4.94	1
(flanking)	-0.763	0.015

?

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

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered gDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Original cDNA sequence snippet

TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT

Altered cDNA sequence snippet

TGGCTGACACTTTCGAACACTTGATAGAAGAGCTGTTGGAT

Wildtype AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Mutated AA sequence

MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHLIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR*

Position of stopcodon in wt / mu CDS

744 / 744

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

248 / 248

Position of stopcodon in wt / mu cDNA

950 / 950

Position of start ATG in wt / mu cDNA

207 / 207

Last intron/exon boundary

185

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

744

Coding sequence (CDS) position

196

cDNA position

402

gDNA position

63690

Chromosomal position

27658369

Speed

0.11 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