Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.21372968316439e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM020369)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:27679916C>TN/A show variant in all transcripts   IGV
HGNC symbol BDNF
Ensembl transcript ID ENST00000438929
Genbank transcript ID NM_001143810
UniProt peptide P23560
alteration type single base exchange
alteration region CDS
DNA changes c.442G>A
cDNA.583G>A
g.63690G>A
AA changes V148M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 148
frameshift no
known variant Reference ID: rs6265
databasehomozygous (T/T)heterozygousallele carriers
1000G173662835
ExAC28791775320632

known disease mutation at this position, please check HGMD for details (HGMD ID CM020369)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5911
3.6881
(flanking)-0.4090.763
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased63695wt: 0.9475 / mu: 0.9537 (marginal change - not scored)wt: GTGATAGAAGAGCTG
mu: ATGATAGAAGAGCTG		 GATA|gaag
Donor marginally increased63693wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: ACGTGATAGAAGAGC
mu: ACATGATAGAAGAGC		 GTGA|taga
distance from splice site 217
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      148GLTSLADTFEHVIEELLDEDQKVR
mutated  all conserved    148GLTSLADTFEHMIEELLDEDQKV
Ptroglodytes  all identical  ENSPTRG00000028696  66DTFEHVIEELLDEDQKV
Mmulatta  all identical  ENSMMUG00000008634  66DTFEHVIEELLDEDQKV
Fcatus  all identical  ENSFCAG00000011653  73GLTSLADTFEHVIEELLDEDQKG
Mmusculus  all identical  ENSMUSG00000048482  106GLTTTSLADTFEHVIEELLDEDQKV
Ggallus  all identical  ENSGALG00000012163  66DTFEHVIEELLDEDQDI
Trubripes  all identical  ENSTRUG00000017268  87GDLPSLTDTFEQVIEELLEVEGEA
Drerio  all identical  ENSDARG00000018817  76GLPSLTDTFEQVIEELLEVEGEATQQL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000004284  67TDTFEHVIEELMEEEQSI
protein features
start (aa)end (aa)featuredetails 
143149STRANDlost
length of protein normal
AA sequence altered yes
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
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 142 / 142
chromosome 11
strand -1
last intron/exon boundary 367
theoretical NMD boundary in CDS 175
length of CDS 990
coding sequence (CDS) position 442
cDNA position
(for ins/del: last normal base / first normal base)		 583
gDNA position
(for ins/del: last normal base / first normal base)		 63690
chromosomal position
(for ins/del: last normal base / first normal base)		 27679916
original gDNA sequence snippet TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT
altered gDNA sequence snippet TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT
original cDNA sequence snippet TGGCTGACACTTTCGAACACGTGATAGAAGAGCTGTTGGAT
altered cDNA sequence snippet TGGCTGACACTTTCGAACACATGATAGAAGAGCTGTTGGAT
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 LADTFEHMIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS
QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD
MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL
TMDSKKRIGW RFIRIDTSCV CTLTIKRGR*
speed 1.09 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project