Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35924 | 107995;107996;107997 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| N2AB | 34283 | 103072;103073;103074 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| N2A | 33356 | 100291;100292;100293 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| N2B | 26859 | 80800;80801;80802 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| Novex-1 | 26984 | 81175;81176;81177 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| Novex-2 | 27051 | 81376;81377;81378 | chr2:178527218;178527217;178527216 | chr2:179391945;179391944;179391943 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs752429003  |
-1.238 | 0.767 | D | 0.321 | 0.552 | 0.438064232554 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -0.379(OBSL1) -0.417(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/A | rs752429003 |
-1.238 | 0.767 | D | 0.321 | 0.552 | 0.438064232554 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.379(OBSL1) -0.417(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6148 | likely_pathogenic | 0.5031 | ambiguous | -1.084 | Destabilizing | 0.767 | D | 0.321 | neutral | D | 0.536603685 | None | -0.379(OBSL1) -0.417(OBSCN) | N |
| P/C | 0.9719 | likely_pathogenic | 0.9564 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | -0.615(OBSL1) -0.057(OBSCN) | N |
| P/D | 0.8916 | likely_pathogenic | 0.8496 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.602 | neutral | None | None | None | -1.184(OBSL1) -0.487(OBSCN) | N |
| P/E | 0.8197 | likely_pathogenic | 0.7466 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.602 | neutral | None | None | None | -1.342(OBSL1) -0.595(OBSCN) | N |
| P/F | 0.9691 | likely_pathogenic | 0.9545 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | -0.006(OBSL1) 0.258(OBSCN) | N |
| P/G | 0.8759 | likely_pathogenic | 0.8208 | pathogenic | -1.316 | Destabilizing | 0.997 | D | 0.581 | neutral | None | None | None | -0.314(OBSL1) -0.4(OBSCN) | N |
| P/H | 0.8532 | likely_pathogenic | 0.7952 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.634298403 | None | -0.169(OBSL1) 0.22(OBSCN) | N |
| P/I | 0.8508 | likely_pathogenic | 0.7972 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | -0.641(OBSL1) -0.502(OBSCN) | N |
| P/K | 0.8532 | likely_pathogenic | 0.7904 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.602 | neutral | None | None | None | -1.106(OBSL1) -0.538(OBSCN) | N |
| P/L | 0.7145 | likely_pathogenic | 0.6348 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.602027516 | None | -0.641(OBSL1) -0.502(OBSCN) | N |
| P/M | 0.8743 | likely_pathogenic | 0.8169 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | -0.593(OBSL1) -0.233(OBSCN) | N |
| P/N | 0.8777 | likely_pathogenic | 0.825 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | -0.662(OBSL1) -0.374(OBSCN) | N |
| P/Q | 0.7806 | likely_pathogenic | 0.695 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | -0.702(OBSL1) -0.301(OBSCN) | N |
| P/R | 0.776 | likely_pathogenic | 0.701 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.655 | neutral | D | 0.633894794 | None | -1.349(OBSL1) -0.819(OBSCN) | N |
| P/S | 0.812 | likely_pathogenic | 0.721 | pathogenic | -0.969 | Destabilizing | 0.992 | D | 0.569 | neutral | D | 0.54103423 | None | -0.228(OBSL1) -0.016(OBSCN) | N |
| P/T | 0.6528 | likely_pathogenic | 0.5401 | ambiguous | -0.927 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.596516285 | None | -0.365(OBSL1) -0.092(OBSCN) | N |
| P/V | 0.7513 | likely_pathogenic | 0.6749 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | -0.543(OBSL1) -0.468(OBSCN) | N |
| P/W | 0.9834 | likely_pathogenic | 0.9758 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | -0.159(OBSL1) 0.257(OBSCN) | N |
| P/Y | 0.9437 | likely_pathogenic | 0.919 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | -0.025(OBSL1) 0.238(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.