Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24286 | 73081;73082;73083 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| N2AB | 22645 | 68158;68159;68160 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| N2A | 21718 | 65377;65378;65379 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| N2B | 15221 | 45886;45887;45888 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| Novex-1 | 15346 | 46261;46262;46263 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| Novex-2 | 15413 | 46462;46463;46464 | chr2:178573276;178573275;178573274 | chr2:179438003;179438002;179438001 |
| 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/R | rs1198682781  |
0.009 | 1.0 | N | 0.763 | 0.488 | 0.700283151579 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.15E-06 | 0 |
| G/R | rs1198682781 |
0.009 | 1.0 | N | 0.763 | 0.488 | 0.700283151579 | gnomAD-4.0.0 | 1.38034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80919E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.758 | 0.54 | 0.857685105731 | gnomAD-4.0.0 | 1.62324E-06 | None | None | None | None | N | None | 0 | 2.37575E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2351 | likely_benign | 0.2049 | benign | -0.189 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.520550805 | None | None | N |
| G/C | 0.2673 | likely_benign | 0.2454 | benign | -0.835 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/D | 0.66 | likely_pathogenic | 0.6073 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/E | 0.7283 | likely_pathogenic | 0.655 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.477314402 | None | None | N |
| G/F | 0.7508 | likely_pathogenic | 0.6667 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/H | 0.5774 | likely_pathogenic | 0.524 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/I | 0.6461 | likely_pathogenic | 0.5552 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/K | 0.8201 | likely_pathogenic | 0.7725 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/L | 0.631 | likely_pathogenic | 0.553 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/M | 0.6375 | likely_pathogenic | 0.5764 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.3605 | ambiguous | 0.3153 | benign | -0.204 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/P | 0.9562 | likely_pathogenic | 0.9412 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/Q | 0.6142 | likely_pathogenic | 0.5544 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/R | 0.6802 | likely_pathogenic | 0.6127 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.496610426 | None | None | N |
| G/S | 0.1359 | likely_benign | 0.1235 | benign | -0.421 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/T | 0.324 | likely_benign | 0.2936 | benign | -0.486 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/V | 0.5043 | ambiguous | 0.417 | ambiguous | -0.249 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.550607249 | None | None | N |
| G/W | 0.6883 | likely_pathogenic | 0.6257 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/Y | 0.6368 | likely_pathogenic | 0.5543 | ambiguous | -0.682 | Destabilizing | 1.0 | D | 0.743 | 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.