mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999966748694 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM067657)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158324425A>GN/A show variant in all transcripts IGV

HGNC symbol

CD1E

Ensembl transcript ID

ENST00000368157

Genbank transcript ID

NM_001185110

UniProt peptide

P15812

alteration type

single base exchange

alteration region

intron

DNA changes

g.1172A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs1065457

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1044	999	2043
ExAC	13486	5795	19281

known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.949	0
	-1.691	0
(flanking)	-1.601	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	1163	wt: 0.62 / mu: 0.69	wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG	atag\|TTTT
Acc marginally increased	1173	wt: 0.6375 / mu: 0.6412 (marginal change - not scored)	wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG	ccag\|ATAG
Acc marginally increased	1176	wt: 0.4363 / mu: 0.4711 (marginal change - not scored)	wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA	gata\|GTGC
Acc marginally increased	1171	wt: 0.9201 / mu: 0.9705 (marginal change - not scored)	wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT	atcc\|AGAT
Donor increased	1171	wt: 0.67 / mu: 0.99	wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC	ATCC\|agat

distance from splice site

589

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
20	31	PROPEP	Removed in sCD1e. /FTId=PRO_0000379780.	might get lost (downstream of altered splice site)
37	46	STRAND		might get lost (downstream of altered splice site)
47	47	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
52	59	STRAND		might get lost (downstream of altered splice site)
62	68	STRAND		might get lost (downstream of altered splice site)
69	72	TURN		might get lost (downstream of altered splice site)
73	75	STRAND		might get lost (downstream of altered splice site)
79	82	HELIX		might get lost (downstream of altered splice site)
84	84	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
87	111	HELIX		might get lost (downstream of altered splice site)
112	116	TURN		might get lost (downstream of altered splice site)
119	129	STRAND		might get lost (downstream of altered splice site)
132	134	STRAND		might get lost (downstream of altered splice site)
136	139	STRAND		might get lost (downstream of altered splice site)
142	145	STRAND		might get lost (downstream of altered splice site)
159	161	TURN		might get lost (downstream of altered splice site)
163	174	HELIX		might get lost (downstream of altered splice site)
176	201	HELIX		might get lost (downstream of altered splice site)
191	301	DOMAIN	Ig-like.	might get lost (downstream of altered splice site)
202	205	TURN		might get lost (downstream of altered splice site)
209	209	CONFLICT	V -> A (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
222	224	STRAND		might get lost (downstream of altered splice site)
228	230	STRAND		might get lost (downstream of altered splice site)
230	230	DISULFID	By similarity.	might get lost (downstream of altered splice site)
232	234	STRAND		might get lost (downstream of altered splice site)
236	238	STRAND		might get lost (downstream of altered splice site)
241	244	STRAND		might get lost (downstream of altered splice site)
248	248	CONFLICT	E -> G (in Ref. 3; BAG64215).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
266	269	STRAND		might get lost (downstream of altered splice site)
271	273	STRAND		might get lost (downstream of altered splice site)
277	280	HELIX		might get lost (downstream of altered splice site)
285	285	DISULFID	By similarity.	might get lost (downstream of altered splice site)
285	288	STRAND		might get lost (downstream of altered splice site)
290	292	TURN		might get lost (downstream of altered splice site)
300	302	STRAND		might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

1 / 1

chromosome

strand

last intron/exon boundary

267

theoretical NMD boundary in CDS

216

length of CDS

399

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

1172

chromosomal position
(for ins/del: last normal base / first normal base)

158324425

original gDNA sequence snippet

ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG

altered gDNA sequence snippet

ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLLLFLLFEG LCCPGENTAV KPEAWLSCGP SPGPGRLQLV CHVSGFYPKP VWVMWMRGGY
SIFLILICLT VIVTLVILVV VDSRLKKQSP VFLMGANTQD TKNSRHQFCL AQVSWIKNRV
LKKWKTRLNQ LW*

mutated AA sequence

N/A

speed

0.86 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