Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35988 | 108187;108188;108189 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| N2AB | 34347 | 103264;103265;103266 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| N2A | 33420 | 100483;100484;100485 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| N2B | 26923 | 80992;80993;80994 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| Novex-1 | 27048 | 81367;81368;81369 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| Novex-2 | 27115 | 81568;81569;81570 | chr2:178527026;178527025;178527024 | chr2:179391753;179391752;179391751 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | None | None | 0.006 | N | 0.392 | 0.098 | 0.380901646489 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | -0.752(OBSL1) -0.368(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9372 | likely_pathogenic | 0.946 | pathogenic | -2.071 | Highly Destabilizing | 0.754 | D | 0.537 | neutral | None | None | None | -0.618(OBSL1) -0.155(OBSCN) | N |
| I/C | 0.9453 | likely_pathogenic | 0.9462 | pathogenic | -1.413 | Destabilizing | 0.998 | D | 0.624 | neutral | None | None | None | -0.777(OBSL1) -1.022(OBSCN) | N |
| I/D | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -1.776 | Destabilizing | 0.993 | D | 0.676 | prob.neutral | None | None | None | -0.709(OBSL1) -0.925(OBSCN) | N |
| I/E | 0.9867 | likely_pathogenic | 0.9861 | pathogenic | -1.736 | Destabilizing | 0.978 | D | 0.677 | prob.neutral | None | None | None | -0.836(OBSL1) -1.091(OBSCN) | N |
| I/F | 0.6515 | likely_pathogenic | 0.6635 | pathogenic | -1.454 | Destabilizing | 0.942 | D | 0.576 | neutral | D | 0.533315834 | None | -0.186(OBSL1) -0.134(OBSCN) | N |
| I/G | 0.9834 | likely_pathogenic | 0.9839 | pathogenic | -2.438 | Highly Destabilizing | 0.978 | D | 0.659 | neutral | None | None | None | -0.559(OBSL1) -0.067(OBSCN) | N |
| I/H | 0.9783 | likely_pathogenic | 0.9758 | pathogenic | -1.647 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | None | None | None | -0.104(OBSL1) 0.032(OBSCN) | N |
| I/K | 0.9638 | likely_pathogenic | 0.954 | pathogenic | -1.391 | Destabilizing | 0.978 | D | 0.681 | prob.neutral | None | None | None | -1.168(OBSL1) -1.196(OBSCN) | N |
| I/L | 0.4058 | ambiguous | 0.4078 | ambiguous | -1.098 | Destabilizing | 0.294 | N | 0.554 | neutral | N | 0.492803716 | None | -0.825(OBSL1) -0.49(OBSCN) | N |
| I/M | 0.4666 | ambiguous | 0.4979 | ambiguous | -0.919 | Destabilizing | 0.942 | D | 0.599 | neutral | D | 0.529825602 | None | -0.664(OBSL1) -0.652(OBSCN) | N |
| I/N | 0.9271 | likely_pathogenic | 0.9223 | pathogenic | -1.261 | Destabilizing | 0.99 | D | 0.689 | prob.neutral | D | 0.530332581 | None | -0.759(OBSL1) -0.623(OBSCN) | N |
| I/P | 0.9789 | likely_pathogenic | 0.975 | pathogenic | -1.395 | Destabilizing | 0.993 | D | 0.685 | prob.neutral | None | None | None | -0.752(OBSL1) -0.368(OBSCN) | N |
| I/Q | 0.9713 | likely_pathogenic | 0.9687 | pathogenic | -1.438 | Destabilizing | 0.993 | D | 0.693 | prob.neutral | None | None | None | -0.779(OBSL1) -0.745(OBSCN) | N |
| I/R | 0.9417 | likely_pathogenic | 0.9245 | pathogenic | -0.827 | Destabilizing | 0.978 | D | 0.689 | prob.neutral | None | None | None | -1.097(OBSL1) -1.123(OBSCN) | N |
| I/S | 0.9211 | likely_pathogenic | 0.9238 | pathogenic | -1.928 | Destabilizing | 0.942 | D | 0.587 | neutral | D | 0.530079091 | None | -0.555(OBSL1) -0.393(OBSCN) | N |
| I/T | 0.8619 | likely_pathogenic | 0.8771 | pathogenic | -1.772 | Destabilizing | 0.822 | D | 0.597 | neutral | D | 0.529825602 | None | -0.673(OBSL1) -0.555(OBSCN) | N |
| I/V | 0.1511 | likely_benign | 0.1622 | benign | -1.395 | Destabilizing | 0.006 | N | 0.392 | neutral | N | 0.4460427 | None | -0.752(OBSL1) -0.368(OBSCN) | N |
| I/W | 0.9886 | likely_pathogenic | 0.9879 | pathogenic | -1.546 | Destabilizing | 0.998 | D | 0.66 | neutral | None | None | None | -0.231(OBSL1) -0.41(OBSCN) | N |
| I/Y | 0.9438 | likely_pathogenic | 0.9358 | pathogenic | -1.333 | Destabilizing | 0.978 | D | 0.605 | neutral | None | None | None | -0.228(OBSL1) -0.156(OBSCN) | 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.