Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.940706573312535 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:128317658C>TN/A show variant in all transcripts   IGV
HGNC symbol FAM71F2
Ensembl transcript ID ENST00000474069
Genbank transcript ID NM_001128926
UniProt peptide Q6NXP2
alteration type single base exchange
alteration region CDS
DNA changes c.379C>T
cDNA.485C>T
g.5317C>T
AA changes R127W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 127
frameshift no
known variant Reference ID: rs6467210
databasehomozygous (T/T)heterozygousallele carriers
1000G3329931325
ExAC59362089526831
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6560.83
0.9960.709
(flanking)0.2830.268
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      127PLKYVELRIYDRLQRILRVRTVTE
mutated  not conserved    127ELRIYDWLQRILRVRTVT
Ptroglodytes  all identical  ENSPTRG00000028396  127ELRIYDRLQRILRVRTVT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000950  136PLKFVELQICDRLQRILRVRTVT
Mmusculus  all identical  ENSMUSG00000079652  126ELQIYDRTQRILRVRTVT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 903 / 903
position (AA) of stopcodon in wt / mu AA sequence 301 / 301
position of stopcodon in wt / mu cDNA 1009 / 1009
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 107 / 107
chromosome 7
strand 1
last intron/exon boundary 1106
theoretical NMD boundary in CDS 949
length of CDS 903
coding sequence (CDS) position 379
cDNA position
(for ins/del: last normal base / first normal base)		 485
gDNA position
(for ins/del: last normal base / first normal base)		 5317
chromosomal position
(for ins/del: last normal base / first normal base)		 128317658
original gDNA sequence snippet TGGAGCTACGAATCTACGACCGGCTCCAGCGCATCCTGAGG
altered gDNA sequence snippet TGGAGCTACGAATCTACGACTGGCTCCAGCGCATCCTGAGG
original cDNA sequence snippet TGGAGCTACGAATCTACGACCGGCTCCAGCGCATCCTGAGG
altered cDNA sequence snippet TGGAGCTACGAATCTACGACTGGCTCCAGCGCATCCTGAGG
wildtype AA sequence MSKIRGLPPE VREPGPGVEL GVENGLLCQL IHSPEFNLFS NSVVFESNFI QVTKPGNWRD
VCEGSATVIL GVTSSVPSLP LPNVLLMANV TWPQGPFTTW STPGDAPVIN LSRLLPLKYV
ELRIYDRLQR ILRVRTVTEK IYYLKLHEKH PEIVFQFWVR LVKILQKGLS ITTKDPRIKF
THCLVPKMPT NSTETTPENS LLSSPQPSEP LVLLAAEQTS GSFSQLSGKP QLTADRNNDT
AIEIDNCSSY KIPSPVASPI NLNIPMRAAL SHSLWEQEDW NEHLLQVHIA SYLGEHFLGA
*
mutated AA sequence MSKIRGLPPE VREPGPGVEL GVENGLLCQL IHSPEFNLFS NSVVFESNFI QVTKPGNWRD
VCEGSATVIL GVTSSVPSLP LPNVLLMANV TWPQGPFTTW STPGDAPVIN LSRLLPLKYV
ELRIYDWLQR ILRVRTVTEK IYYLKLHEKH PEIVFQFWVR LVKILQKGLS ITTKDPRIKF
THCLVPKMPT NSTETTPENS LLSSPQPSEP LVLLAAEQTS GSFSQLSGKP QLTADRNNDT
AIEIDNCSSY KIPSPVASPI NLNIPMRAAL SHSLWEQEDW NEHLLQVHIA SYLGEHFLGA
*
speed 0.80 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