Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35901 | 107926;107927;107928 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| N2AB | 34260 | 103003;103004;103005 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| N2A | 33333 | 100222;100223;100224 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| N2B | 26836 | 80731;80732;80733 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| Novex-1 | 26961 | 81106;81107;81108 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| Novex-2 | 27028 | 81307;81308;81309 | chr2:178527287;178527286;178527285 | chr2:179392014;179392013;179392012 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | 1.0 | N | 0.547 | 0.342 | 0.434716162284 | gnomAD-4.0.0 | 1.6349E-06 | None | None | None | -0.986(OBSL1) -1.123(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48161E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8248 | likely_pathogenic | 0.82 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | 0.141(OBSL1) -0.452(OBSCN) | N |
| A/D | 0.6742 | likely_pathogenic | 0.5695 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.500504409 | None | 0.546(OBSL1) -1.519(OBSCN) | N |
| A/E | 0.6145 | likely_pathogenic | 0.5192 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | 0.528(OBSL1) -1.561(OBSCN) | N |
| A/F | 0.6838 | likely_pathogenic | 0.6322 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | -0.031(OBSL1) -0.028(OBSCN) | N |
| A/G | 0.3534 | ambiguous | 0.3099 | benign | -0.434 | Destabilizing | 1.0 | D | 0.501 | neutral | N | 0.477974266 | None | -1.201(OBSL1) -1.183(OBSCN) | N |
| A/H | 0.8135 | likely_pathogenic | 0.7702 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | -0.305(OBSL1) -0.87(OBSCN) | N |
| A/I | 0.7394 | likely_pathogenic | 0.6789 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | -0.92(OBSL1) -1.121(OBSCN) | N |
| A/K | 0.8444 | likely_pathogenic | 0.7736 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.891(OBSL1) -1.678(OBSCN) | N |
| A/L | 0.5485 | ambiguous | 0.4912 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | -0.92(OBSL1) -1.121(OBSCN) | N |
| A/M | 0.6042 | likely_pathogenic | 0.5576 | ambiguous | -0.404 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | -0.474(OBSL1) -0.673(OBSCN) | N |
| A/N | 0.5691 | likely_pathogenic | 0.4923 | ambiguous | -0.487 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | -0.132(OBSL1) -0.561(OBSCN) | N |
| A/P | 0.8933 | likely_pathogenic | 0.7982 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.498600254 | None | -0.986(OBSL1) -1.123(OBSCN) | N |
| A/Q | 0.6727 | likely_pathogenic | 0.6099 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | -0.059(OBSL1) -0.716(OBSCN) | N |
| A/R | 0.7405 | likely_pathogenic | 0.6725 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | -1.321(OBSL1) -1.928(OBSCN) | N |
| A/S | 0.1795 | likely_benign | 0.162 | benign | -0.65 | Destabilizing | 1.0 | D | 0.504 | neutral | N | 0.438935875 | None | -0.395(OBSL1) -0.587(OBSCN) | N |
| A/T | 0.319 | likely_benign | 0.2611 | benign | -0.703 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.485302883 | None | -0.398(OBSL1) -0.639(OBSCN) | N |
| A/V | 0.4361 | ambiguous | 0.3729 | ambiguous | -0.27 | Destabilizing | 1.0 | D | 0.547 | neutral | N | 0.471509653 | None | -0.986(OBSL1) -1.123(OBSCN) | N |
| A/W | 0.9436 | likely_pathogenic | 0.9279 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | 0.061(OBSL1) -0.054(OBSCN) | N |
| A/Y | 0.7647 | likely_pathogenic | 0.7285 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | 0.03(OBSL1) 0.163(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.