Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18513 | 55762;55763;55764 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| N2AB | 16872 | 50839;50840;50841 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| N2A | 15945 | 48058;48059;48060 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| N2B | 9448 | 28567;28568;28569 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| Novex-1 | 9573 | 28942;28943;28944 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| Novex-2 | 9640 | 29143;29144;29145 | chr2:178601460;178601459;178601458 | chr2:179466187;179466186;179466185 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs753550237  |
-0.617 | 0.64 | N | 0.551 | 0.199 | 0.216624796971 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs753550237 |
-0.617 | 0.64 | N | 0.551 | 0.199 | 0.216624796971 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs753550237 |
-0.617 | 0.64 | N | 0.551 | 0.199 | 0.216624796971 | gnomAD-4.0.0 | 9.30046E-06 | None | None | None | None | N | None | 4.00919E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63146E-06 | 2.19713E-05 | 1.60179E-05 |
| G/D | None | None | 0.811 | N | 0.684 | 0.327 | 0.278968121808 | gnomAD-4.0.0 | 2.73815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59916E-06 | 0 | 0 |
| G/V | None | None | 0.984 | N | 0.794 | 0.44 | 0.750688439912 | gnomAD-4.0.0 | 6.84539E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65728E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2103 | likely_benign | 0.2512 | benign | -0.855 | Destabilizing | 0.64 | D | 0.551 | neutral | N | 0.497975818 | None | None | N |
| G/C | 0.2759 | likely_benign | 0.2984 | benign | -1.23 | Destabilizing | 0.999 | D | 0.806 | deleterious | N | 0.480467954 | None | None | N |
| G/D | 0.6119 | likely_pathogenic | 0.6546 | pathogenic | -1.763 | Destabilizing | 0.811 | D | 0.684 | prob.neutral | N | 0.508384812 | None | None | N |
| G/E | 0.6622 | likely_pathogenic | 0.7111 | pathogenic | -1.775 | Destabilizing | 0.919 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/F | 0.7891 | likely_pathogenic | 0.8444 | pathogenic | -1.109 | Destabilizing | 0.996 | D | 0.82 | deleterious | None | None | None | None | N |
| G/H | 0.4897 | ambiguous | 0.5295 | ambiguous | -1.426 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/I | 0.776 | likely_pathogenic | 0.8484 | pathogenic | -0.358 | Destabilizing | 0.988 | D | 0.827 | deleterious | None | None | None | None | N |
| G/K | 0.709 | likely_pathogenic | 0.7609 | pathogenic | -1.231 | Destabilizing | 0.976 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/L | 0.759 | likely_pathogenic | 0.8246 | pathogenic | -0.358 | Destabilizing | 0.988 | D | 0.774 | deleterious | None | None | None | None | N |
| G/M | 0.7477 | likely_pathogenic | 0.8157 | pathogenic | -0.431 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| G/N | 0.322 | likely_benign | 0.3301 | benign | -1.093 | Destabilizing | 0.076 | N | 0.439 | neutral | None | None | None | None | N |
| G/P | 0.9961 | likely_pathogenic | 0.9975 | pathogenic | -0.483 | Destabilizing | 0.988 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Q | 0.5916 | likely_pathogenic | 0.6388 | pathogenic | -1.261 | Destabilizing | 0.988 | D | 0.75 | deleterious | None | None | None | None | N |
| G/R | 0.556 | ambiguous | 0.6114 | pathogenic | -0.973 | Destabilizing | 0.968 | D | 0.765 | deleterious | N | 0.48893226 | None | None | N |
| G/S | 0.1365 | likely_benign | 0.1503 | benign | -1.363 | Destabilizing | 0.123 | N | 0.335 | neutral | N | 0.418378883 | None | None | N |
| G/T | 0.3292 | likely_benign | 0.4014 | ambiguous | -1.297 | Destabilizing | 0.851 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/V | 0.6185 | likely_pathogenic | 0.7134 | pathogenic | -0.483 | Destabilizing | 0.984 | D | 0.794 | deleterious | N | 0.502077701 | None | None | N |
| G/W | 0.6569 | likely_pathogenic | 0.7132 | pathogenic | -1.51 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/Y | 0.567 | likely_pathogenic | 0.6283 | pathogenic | -1.068 | Destabilizing | 0.996 | D | 0.821 | 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.