mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known disease mutation at this position (HGMD CM984065)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:74272477T>CN/A show variant in all transcripts IGV

HGNC symbol

ALB

Ensembl transcript ID

ENST00000503124

Genbank transcript ID

N/A

UniProt peptide

P02768

alteration type

single base exchange

alteration region

CDS

DNA changes

c.31T>C
cDNA.238T>C
g.9647T>C

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs77892378
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM984065)

known disease mutation at this position, please check HGMD for details (HGMD ID CM984065)
known disease mutation at this position, please check HGMD for details (HGMD ID CM984065)

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.03	0.148
	3.277	0.971
(flanking)	0.447	0.984

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	9647	sequence motif lost	-	wt: ACTT\|gtaa mu: ACCT.gtaa
Donor increased	9652	wt: 0.22 / mu: 0.42	wt: TTGTAAGTACATTCT mu: CTGTAAGTACATTCT	GTAA\|gtac
Donor marginally decreased	9647	wt: 0.9519 / mu: 0.9519 (marginal change - not scored)	wt: ATCACTTGTAAGTAC mu: ATCACCTGTAAGTAC	CACT\|tgta
Donor increased	9641	wt: 0.41 / mu: 0.55	wt: TGACAAATCACTTGT mu: TGACAAATCACCTGT	ACAA\|atca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	18	SIGNAL		might get lost (downstream of altered splice site)
19	22	PROPEP	/FTId=PRO_0000001067.	might get lost (downstream of altered splice site)
19	210	DOMAIN	Albumin 1.	might get lost (downstream of altered splice site)
27	27	METAL	Copper (By similarity).	might get lost (downstream of altered splice site)
28	28	SITE	Not glycated.	might get lost (downstream of altered splice site)
30	38	HELIX		might get lost (downstream of altered splice site)
36	36	CARBOHYD	N-linked (Glc) (glycation) (Probable).	might get lost (downstream of altered splice site)
40	54	HELIX		might get lost (downstream of altered splice site)
44	44	SITE	Not glycated.	might get lost (downstream of altered splice site)
55	55	CONFLICT	L -> P (in Ref. 11; CAH18185).	might get lost (downstream of altered splice site)
55	58	STRAND		might get lost (downstream of altered splice site)
60	79	HELIX		might get lost (downstream of altered splice site)
65	65	SITE	Not glycated.	might get lost (downstream of altered splice site)
75	75	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
77	77	DISULFID		might get lost (downstream of altered splice site)
82	82	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
84	87	TURN		might get lost (downstream of altered splice site)
86	86	DISULFID		might get lost (downstream of altered splice site)
88	88	SITE	Not glycated.	might get lost (downstream of altered splice site)
90	99	HELIX		might get lost (downstream of altered splice site)
91	91	METAL	Zinc.	might get lost (downstream of altered splice site)
97	97	SITE	Not glycated.	might get lost (downstream of altered splice site)
99	99	DISULFID		might get lost (downstream of altered splice site)
101	103	TURN		might get lost (downstream of altered splice site)
104	108	HELIX		might get lost (downstream of altered splice site)
108	108	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
109	116	HELIX		might get lost (downstream of altered splice site)
114	114	DISULFID		might get lost (downstream of altered splice site)
115	115	DISULFID		might get lost (downstream of altered splice site)
117	117	SITE	Not glycated.	might get lost (downstream of altered splice site)
119	128	HELIX		might get lost (downstream of altered splice site)
122	122	CONFLICT	R -> S (in Ref. 4; AAF01333).	might get lost (downstream of altered splice site)
123	123	METAL	Zinc.	might get lost (downstream of altered splice site)
125	125	DISULFID		might get lost (downstream of altered splice site)
130	130	SITE	Not glycated.	might get lost (downstream of altered splice site)
144	153	HELIX		might get lost (downstream of altered splice site)
148	148	DISULFID		might get lost (downstream of altered splice site)
155	155	CONFLICT	E -> Q (in Ref. 18; AA sequence).	might get lost (downstream of altered splice site)
155	169	HELIX		might get lost (downstream of altered splice site)
160	160	SITE	Not glycated.	might get lost (downstream of altered splice site)
161	161	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
164	164	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
170	173	STRAND		might get lost (downstream of altered splice site)
174	174	CONFLICT	Y -> L (in Ref. 23; AA sequence and 24; AA sequence).	might get lost (downstream of altered splice site)
175	192	HELIX		might get lost (downstream of altered splice site)
183	183	SITE	Not glycated.	might get lost (downstream of altered splice site)
186	186	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
192	192	DISULFID		might get lost (downstream of altered splice site)
193	193	DISULFID		might get lost (downstream of altered splice site)
194	194	CONFLICT	Q -> E (in Ref. 18; AA sequence).	might get lost (downstream of altered splice site)
195	197	STRAND		might get lost (downstream of altered splice site)
198	198	SITE	Not glycated.	might get lost (downstream of altered splice site)
198	230	HELIX		might get lost (downstream of altered splice site)
201	201	DISULFID		might get lost (downstream of altered splice site)
205	205	SITE	Not glycated.	might get lost (downstream of altered splice site)
211	403	DOMAIN	Albumin 2.	might get lost (downstream of altered splice site)
214	214	SITE	Not glycated.	might get lost (downstream of altered splice site)
219	219	SITE	Not glycated.	might get lost (downstream of altered splice site)
223	223	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
223	223	SITE	Aspirin-acetylated lysine.	might get lost (downstream of altered splice site)
224	224	DISULFID		might get lost (downstream of altered splice site)
229	229	SITE	Not glycated.	might get lost (downstream of altered splice site)
232	246	HELIX		might get lost (downstream of altered splice site)
236	236	SITE	Not glycated.	might get lost (downstream of altered splice site)
248	250	STRAND		might get lost (downstream of altered splice site)
249	249	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
252	271	HELIX		might get lost (downstream of altered splice site)
257	257	CARBOHYD	N-linked (Glc) (glycation) (Probable).	might get lost (downstream of altered splice site)
264	264	SITE	Not glycated.	might get lost (downstream of altered splice site)
264	264	BINDING	Bilirubin.	might get lost (downstream of altered splice site)
269	269	DISULFID		might get lost (downstream of altered splice site)
270	270	DISULFID		might get lost (downstream of altered splice site)
271	271	METAL	Zinc.	might get lost (downstream of altered splice site)
273	273	METAL	Zinc.	might get lost (downstream of altered splice site)
274	289	HELIX		might get lost (downstream of altered splice site)
277	277	DISULFID		might get lost (downstream of altered splice site)
286	286	SITE	Not glycated.	might get lost (downstream of altered splice site)
289	289	DISULFID		might get lost (downstream of altered splice site)
290	294	HELIX		might get lost (downstream of altered splice site)
294	294	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
297	297	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
297	299	HELIX		might get lost (downstream of altered splice site)
298	298	SITE	Not glycated.	might get lost (downstream of altered splice site)
300	300	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
300	303	HELIX		might get lost (downstream of altered splice site)
302	302	DISULFID		might get lost (downstream of altered splice site)
303	303	DISULFID		might get lost (downstream of altered splice site)
305	305	CARBOHYD	N-linked (Glc) (glycation).	might get lost (downstream of altered splice site)
307	315	HELIX		might get lost (downstream of altered splice site)
310	310	SITE	Not glycated.	might get lost (downstream of altered splice site)
313	313	DISULFID		might get lost (downstream of altered splice site)
327	332	CONFLICT	PSLAAD -> MFVLLC (in Ref. 10; AAF71067).	might get lost (downstream of altered splice site)
330	333	HELIX		might get lost (downstream of altered splice site)
336	338	STRAND		might get lost (downstream of altered splice site)
337	337	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
339	345	HELIX		might get lost (downstream of altered splice site)
340	340	DISULFID		might get lost (downstream of altered splice site)
341	341	CARBOHYD	N-linked (Glc) (glycation) (Probable).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...); in variant Redhill. /FTId=CAR_000226.	might get lost (downstream of altered splice site)
347	347	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
347	360	HELIX		might get lost (downstream of altered splice site)
367	384	HELIX		might get lost (downstream of altered splice site)
375	375	CARBOHYD	N-linked (Glc) (glycation) (Probable).	might get lost (downstream of altered splice site)
383	383	SITE	Not glycated.	might get lost (downstream of altered splice site)
384	384	DISULFID		might get lost (downstream of altered splice site)
385	385	DISULFID		might get lost (downstream of altered splice site)
387	389	STRAND		might get lost (downstream of altered splice site)
390	394	HELIX		might get lost (downstream of altered splice site)
393	393	DISULFID		might get lost (downstream of altered splice site)
396	396	SITE	Not glycated.	might get lost (downstream of altered splice site)
397	422	HELIX		might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
404	601	DOMAIN	Albumin 3.	might get lost (downstream of altered splice site)
405	405	CONFLICT	V -> A (in Ref. 10; AAF71067).	might get lost (downstream of altered splice site)
409	409	CONFLICT	Q -> E (in Ref. 14; AAH14308).	might get lost (downstream of altered splice site)
413	413	SITE	Not glycated.	might get lost (downstream of altered splice site)
416	416	DISULFID		might get lost (downstream of altered splice site)
424	438	HELIX		might get lost (downstream of altered splice site)
426	426	SITE	Not glycated.	might get lost (downstream of altered splice site)
437	437	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
438	438	SITE	Not glycated.	might get lost (downstream of altered splice site)
440	442	STRAND		might get lost (downstream of altered splice site)
441	441	CONFLICT	Q -> E (in Ref. 2; CAA23753).	might get lost (downstream of altered splice site)
443	443	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
444	444	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
444	461	HELIX		might get lost (downstream of altered splice site)
446	446	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
456	456	SITE	Not glycated.	might get lost (downstream of altered splice site)
460	460	SITE	Not glycated.	might get lost (downstream of altered splice site)
461	461	DISULFID		might get lost (downstream of altered splice site)
462	462	DISULFID		might get lost (downstream of altered splice site)
462	464	STRAND		might get lost (downstream of altered splice site)
463	463	CARBOHYD	N-linked (Glc) (glycation).	might get lost (downstream of altered splice site)
466	466	CONFLICT	E -> G (in Ref. 4; AAF01333).	might get lost (downstream of altered splice site)
466	488	HELIX		might get lost (downstream of altered splice site)
468	468	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
472	472	DISULFID		might get lost (downstream of altered splice site)
485	485	DISULFID		might get lost (downstream of altered splice site)
488	489	CONFLICT	HE -> EH (in Ref. 18; AA sequence).	might get lost (downstream of altered splice site)
490	490	SITE	Not glycated.	might get lost (downstream of altered splice site)
490	490	CONFLICT	K -> R (in Ref. 11; CAH18185).	might get lost (downstream of altered splice site)
495	502	HELIX		might get lost (downstream of altered splice site)
499	499	SITE	Not glycated.	might get lost (downstream of altered splice site)
500	500	DISULFID		might get lost (downstream of altered splice site)
501	501	DISULFID		might get lost (downstream of altered splice site)
505	507	TURN		might get lost (downstream of altered splice site)
508	513	HELIX		might get lost (downstream of altered splice site)
511	511	DISULFID		might get lost (downstream of altered splice site)
518	518	CARBOHYD	N-linked (GlcNAc...); in variant Casebrook. /FTId=CAR_000069.	might get lost (downstream of altered splice site)
519	521	STRAND		might get lost (downstream of altered splice site)
524	524	SITE	Not glycated.	might get lost (downstream of altered splice site)
525	525	CONFLICT	E -> Q (in Ref. 18; AA sequence).	might get lost (downstream of altered splice site)
529	531	HELIX		might get lost (downstream of altered splice site)
535	538	HELIX		might get lost (downstream of altered splice site)
538	538	DISULFID		might get lost (downstream of altered splice site)
542	559	HELIX		might get lost (downstream of altered splice site)
543	543	SITE	Not glycated.	might get lost (downstream of altered splice site)
548	548	SITE	Not glycated.	might get lost (downstream of altered splice site)
549	549	CARBOHYD	N-linked (Glc) (glycation).	might get lost (downstream of altered splice site)
551	551	CONFLICT	T -> A (in Ref. 11; CAH18185).	might get lost (downstream of altered splice site)
558	558	CARBOHYD	N-linked (Glc) (glycation) (Probable).	might get lost (downstream of altered splice site)
560	560	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
560	560	CONFLICT	K -> R (in Ref. 11; CAH18185).	might get lost (downstream of altered splice site)
561	563	STRAND		might get lost (downstream of altered splice site)
562	562	SITE	Not glycated.	might get lost (downstream of altered splice site)
565	565	SITE	Not glycated.	might get lost (downstream of altered splice site)
565	583	HELIX		might get lost (downstream of altered splice site)
569	569	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
581	581	SITE	Not glycated.	might get lost (downstream of altered splice site)
582	582	DISULFID		might get lost (downstream of altered splice site)
583	583	DISULFID		might get lost (downstream of altered splice site)
584	584	SITE	Not glycated.	might get lost (downstream of altered splice site)
584	587	STRAND		might get lost (downstream of altered splice site)
588	588	SITE	Not glycated.	might get lost (downstream of altered splice site)
588	590	HELIX		might get lost (downstream of altered splice site)
591	591	DISULFID		might get lost (downstream of altered splice site)
591	593	TURN		might get lost (downstream of altered splice site)
594	606	HELIX		might get lost (downstream of altered splice site)
597	597	CARBOHYD	N-linked (Glc) (glycation); in vitro.	might get lost (downstream of altered splice site)
598	598	SITE	Not glycated.	might get lost (downstream of altered splice site)
604	604	CONFLICT	Q -> R (in Ref. 5; AAN17825).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

1380 / 1380

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

460 / 460

position of stopcodon in wt / mu cDNA

1587 / 1587

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

208 / 208

chromosome

strand

last intron/exon boundary

1611

theoretical NMD boundary in CDS

1353

length of CDS

1380

coding sequence (CDS) position

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

238

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

9647

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

74272477

original gDNA sequence snippet

TGAAAATTGTGACAAATCACTTGTAAGTACATTCTAATTGT

altered gDNA sequence snippet

TGAAAATTGTGACAAATCACCTGTAAGTACATTCTAATTGT

original cDNA sequence snippet

TGAAAATTGTGACAAATCACTTATACTTATATGAAATTGCC

altered cDNA sequence snippet

TGAAAATTGTGACAAATCACCTATACTTATATGAAATTGCC

wildtype AA sequence

MSQLKIVTNH LYLYEIARRH PYFYAPELLF FAKRYKAAFT ECCQAADKAA CLLPKLDELR
DEGKASSAKQ RLKCASLQKF GERAFKAWAV ARLSQRFPKA EFAEVSKLVT DLTKVHTECC
HGDLLECADD RADLAKYICE NQDSISSKLK ECCEKPLLEK SHCIAEVEND EMPADLPSLA
ADFVESKDVC KNYAEAKDVF LGMFLYEYAR RHPDYSVVLL LRLAKTYETT LEKCCAAADP
HECYAKVFDE FKPLVEEPQN LIKQNCELFE QLGEYKFQNA LLVRYTKKVP QVSTPTLVEV
SRNLGKVGSK CCKHPEAKRM PCAEDYLSVV LNQLCVLHEK TPVSDRVTKC CTESLVNRRP
CFSALEVDET YVPKEFNAET FTFHADICTL SEKERQIKKQ TALVELVKHK PKATKEQLKA
VMDDFAAFVE KCCKADDKET CFAEEGKKLV AASQAALGL*

mutated AA sequence

speed

0.38 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