Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 24733 | 74422;74423;74424 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
N2AB | 23092 | 69499;69500;69501 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
N2A | 22165 | 66718;66719;66720 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
N2B | 15668 | 47227;47228;47229 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
Novex-1 | 15793 | 47602;47603;47604 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
Novex-2 | 15860 | 47803;47804;47805 | chr2:178571935;178571934;178571933 | chr2:179436662;179436661;179436660 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/Q | None | None | 0.999 | N | 0.889 | 0.482 | 0.811399548127 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/A | 0.91 | likely_pathogenic | 0.9155 | pathogenic | -2.253 | Highly Destabilizing | 0.968 | D | 0.693 | prob.neutral | None | None | None | None | N |
L/C | 0.8362 | likely_pathogenic | 0.8371 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
L/D | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.755 | Destabilizing | 0.998 | D | 0.893 | deleterious | None | None | None | None | N |
L/E | 0.991 | likely_pathogenic | 0.9923 | pathogenic | -1.639 | Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
L/F | 0.5169 | ambiguous | 0.5174 | ambiguous | -1.384 | Destabilizing | 0.991 | D | 0.789 | deleterious | None | None | None | None | N |
L/G | 0.9852 | likely_pathogenic | 0.9873 | pathogenic | -2.713 | Highly Destabilizing | 0.995 | D | 0.87 | deleterious | None | None | None | None | N |
L/H | 0.9739 | likely_pathogenic | 0.9777 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
L/I | 0.1571 | likely_benign | 0.1575 | benign | -0.989 | Destabilizing | 0.142 | N | 0.319 | neutral | N | 0.466060108 | None | None | N |
L/K | 0.9758 | likely_pathogenic | 0.9801 | pathogenic | -1.714 | Destabilizing | 0.995 | D | 0.863 | deleterious | None | None | None | None | N |
L/M | 0.2398 | likely_benign | 0.2446 | benign | -0.873 | Destabilizing | 0.991 | D | 0.759 | deleterious | None | None | None | None | N |
L/N | 0.9923 | likely_pathogenic | 0.9935 | pathogenic | -1.733 | Destabilizing | 0.998 | D | 0.891 | deleterious | None | None | None | None | N |
L/P | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | -1.383 | Destabilizing | 0.998 | D | 0.89 | deleterious | N | 0.515377385 | None | None | N |
L/Q | 0.9545 | likely_pathogenic | 0.961 | pathogenic | -1.757 | Destabilizing | 0.999 | D | 0.889 | deleterious | N | 0.515377385 | None | None | N |
L/R | 0.9572 | likely_pathogenic | 0.9641 | pathogenic | -1.215 | Destabilizing | 0.998 | D | 0.887 | deleterious | N | 0.49701964 | None | None | N |
L/S | 0.9836 | likely_pathogenic | 0.9857 | pathogenic | -2.497 | Highly Destabilizing | 0.995 | D | 0.867 | deleterious | None | None | None | None | N |
L/T | 0.9164 | likely_pathogenic | 0.9247 | pathogenic | -2.239 | Highly Destabilizing | 0.991 | D | 0.807 | deleterious | None | None | None | None | N |
L/V | 0.186 | likely_benign | 0.1835 | benign | -1.383 | Destabilizing | 0.618 | D | 0.559 | neutral | N | 0.457301765 | None | None | N |
L/W | 0.9168 | likely_pathogenic | 0.9261 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
L/Y | 0.94 | likely_pathogenic | 0.9455 | pathogenic | -1.323 | Destabilizing | 0.995 | D | 0.876 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.