Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:121586882A>GN/A show variant in all transcripts   IGV
HGNC symbol INPP5F
Ensembl transcript ID ENST00000369080
Genbank transcript ID N/A
UniProt peptide Q9Y2H2
alteration type single base exchange
alteration region CDS
DNA changes c.1159A>G
cDNA.1927A>G
g.101274A>G
AA changes N387D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 387
frameshift no
known variant Reference ID: rs3188055
databasehomozygous (G/G)heterozygousallele carriers
1000G2069351141
ExAC52942217927473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9730
0.9790.001
(flanking)0.540.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1012730.60mu: GTTTCAGATGAAACC TTCA|gatg
distance from splice site 740
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      387QERNQMTNQVSNETQSESTEQTPS
mutated  all conserved    387QERNQMTNQVSDETQSESTEQTP
Ptroglodytes  not conserved  ENSPTRG00000022873  997NQMTNQVSNEETQSESTEQTP
Mmulatta  not conserved  ENSMMUG00000009558  1015NQMTSEVSNEETQSESTEQTP
Fcatus  not conserved  ENSFCAG00000019160  964EE-NQVTNQVSNEETPSESTEPLP
Mmusculus  not conserved  ENSMUSG00000042105  997GSHKTNRVSNEETQSEPMGQTP
Ggallus  not conserved  ENSGALG00000009445  1009VINETSNNVCKKAENKTETIGGIP
Trubripes  not conserved  ENSTRUG00000017919  997PQLNPLVPVLSKSSADTDDCEKRHQQEAQLP
Drerio  not conserved  ENSDARG00000061437  1002PQGPQVPLAPDAKLGSSHSQNQL
Dmelanogaster  not conserved  FBgn0038890  1125PEANKLKQLTSPLSKLAKNIGLN
Celegans  no alignment  W09C5.7  n/a
Xtropicalis  not conserved  ENSXETG00000010235  981QETSS-NNSPKIPAPLESDAELI
protein features
start (aa)end (aa)featuredetails 
167518DOMAINSAC.lost
386386CONFLICTI -> V (in Ref. 5; AAI11494).might get lost (downstream of altered splice site)
460460MUTAGEND->A: Loss of phosphatase activity.might get lost (downstream of altered splice site)
829829MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
905905MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
909909MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
942942MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10691069MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1569 / 1569
position (AA) of stopcodon in wt / mu AA sequence 523 / 523
position of stopcodon in wt / mu cDNA 2337 / 2337
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 769 / 769
chromosome 10
strand 1
last intron/exon boundary 1188
theoretical NMD boundary in CDS 369
length of CDS 1569
coding sequence (CDS) position 1159
cDNA position
(for ins/del: last normal base / first normal base)		 1927
gDNA position
(for ins/del: last normal base / first normal base)		 101274
chromosomal position
(for ins/del: last normal base / first normal base)		 121586882
original gDNA sequence snippet AAATGACCAATCAAGTTTCAAATGAAACCCAATCAGAATCA
altered gDNA sequence snippet AAATGACCAATCAAGTTTCAGATGAAACCCAATCAGAATCA
original cDNA sequence snippet AAATGACCAATCAAGTTTCAAATGAAACCCAATCAGAATCA
altered cDNA sequence snippet AAATGACCAATCAAGTTTCAGATGAAACCCAATCAGAATCA
wildtype AA sequence MCHDVIFMAW LKQQFSECTL IDATHRDVDV LLLLSNSAYY VAYYDDEVDK VNQYQRLSLE
NLEKIEIGPE PTLFGKPKFS CMRLHYRYKE ASGYFHTLRA VMRNPEEDGK DTLQCIAEML
QITKQAMGSD LPIIEKKLER KSSKPHEDII GIRSQNQGSL AQGKNFLMSK FSSLNQKVKQ
TKSNVNIGNL RKLGNFTKPE MKVNFLKPNL KVNLWKSDSS LETMENTGVM DKVQAESDGD
MSSDNDSYHS DEFLTNSKSD EDRQLANSLE SVGPIDYVLP SCGIIASAPR LGSRSQSLSS
TDSSVHAPSE ITVAHGSGLG KGQESPLKKS PSAGDVHILT GFAKPMDIYC HRFVQDAQNK
VTHLSETRSV SQQASQERNQ MTNQVSNETQ SESTEQTPSR PSQLDVSLSA TGPQFLSVEP
AHSVASQKTP TSASSMLELE TGLHVTPSPS ESSSSRAVSP FAKIRSSMVQ VASITQAGLT
HGINFAVSKV QKSPPEPEII NQVQQNELKK MFIQCQTRII QI*
mutated AA sequence MCHDVIFMAW LKQQFSECTL IDATHRDVDV LLLLSNSAYY VAYYDDEVDK VNQYQRLSLE
NLEKIEIGPE PTLFGKPKFS CMRLHYRYKE ASGYFHTLRA VMRNPEEDGK DTLQCIAEML
QITKQAMGSD LPIIEKKLER KSSKPHEDII GIRSQNQGSL AQGKNFLMSK FSSLNQKVKQ
TKSNVNIGNL RKLGNFTKPE MKVNFLKPNL KVNLWKSDSS LETMENTGVM DKVQAESDGD
MSSDNDSYHS DEFLTNSKSD EDRQLANSLE SVGPIDYVLP SCGIIASAPR LGSRSQSLSS
TDSSVHAPSE ITVAHGSGLG KGQESPLKKS PSAGDVHILT GFAKPMDIYC HRFVQDAQNK
VTHLSETRSV SQQASQERNQ MTNQVSDETQ SESTEQTPSR PSQLDVSLSA TGPQFLSVEP
AHSVASQKTP TSASSMLELE TGLHVTPSPS ESSSSRAVSP FAKIRSSMVQ VASITQAGLT
HGINFAVSKV QKSPPEPEII NQVQQNELKK MFIQCQTRII QI*
speed 0.70 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