Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5212 | 15859;15860;15861 | chr2:178733755;178733754;178733753 | chr2:179598482;179598481;179598480 |
| N2AB | 4895 | 14908;14909;14910 | chr2:178733755;178733754;178733753 | chr2:179598482;179598481;179598480 |
| N2A | 3968 | 12127;12128;12129 | chr2:178733755;178733754;178733753 | chr2:179598482;179598481;179598480 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | None | None | None | N | 0.15 | 0.072 | 0.134241683229 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/R | rs377754692  |
-0.279 | 0.566 | N | 0.38 | 0.112 | 0.379020345274 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 4.13E-05 | 1.41363E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.56E-05 | 0 |
| G/R | rs377754692 |
-0.279 | 0.566 | N | 0.38 | 0.112 | 0.379020345274 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.42E-05 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs377754692 |
-0.279 | 0.566 | N | 0.38 | 0.112 | 0.379020345274 | gnomAD-4.0.0 | 1.85914E-05 | None | None | None | None | N | None | 1.33561E-05 | 8.33556E-05 | None | 0 | 0 | None | 0 | 0 | 1.94952E-05 | 1.09798E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0899 | likely_benign | 0.1053 | benign | -0.223 | Destabilizing | 0.027 | N | 0.275 | neutral | N | 0.451875667 | None | None | N |
| G/C | 0.164 | likely_benign | 0.2123 | benign | -0.897 | Destabilizing | 0.935 | D | 0.407 | neutral | None | None | None | None | N |
| G/D | 0.0781 | likely_benign | 0.0926 | benign | -0.724 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| G/E | 0.0767 | likely_benign | 0.0822 | benign | -0.877 | Destabilizing | None | N | 0.15 | neutral | N | 0.377998324 | None | None | N |
| G/F | 0.3633 | ambiguous | 0.4623 | ambiguous | -0.929 | Destabilizing | 0.791 | D | 0.387 | neutral | None | None | None | None | N |
| G/H | 0.1665 | likely_benign | 0.2044 | benign | -0.397 | Destabilizing | 0.555 | D | 0.358 | neutral | None | None | None | None | N |
| G/I | 0.1649 | likely_benign | 0.2047 | benign | -0.373 | Destabilizing | 0.555 | D | 0.413 | neutral | None | None | None | None | N |
| G/K | 0.1292 | likely_benign | 0.1482 | benign | -0.859 | Destabilizing | 0.081 | N | 0.275 | neutral | None | None | None | None | N |
| G/L | 0.2253 | likely_benign | 0.2847 | benign | -0.373 | Destabilizing | 0.38 | N | 0.412 | neutral | None | None | None | None | N |
| G/M | 0.2744 | likely_benign | 0.3349 | benign | -0.57 | Destabilizing | 0.935 | D | 0.386 | neutral | None | None | None | None | N |
| G/N | 0.1253 | likely_benign | 0.1514 | benign | -0.491 | Destabilizing | 0.001 | N | 0.182 | neutral | None | None | None | None | N |
| G/P | 0.3011 | likely_benign | 0.3724 | ambiguous | -0.292 | Destabilizing | 0.555 | D | 0.383 | neutral | None | None | None | None | N |
| G/Q | 0.1156 | likely_benign | 0.132 | benign | -0.768 | Destabilizing | 0.081 | N | 0.347 | neutral | None | None | None | None | N |
| G/R | 0.1023 | likely_benign | 0.1148 | benign | -0.392 | Destabilizing | 0.566 | D | 0.38 | neutral | N | 0.452056394 | None | None | N |
| G/S | 0.0709 | likely_benign | 0.0775 | benign | -0.609 | Destabilizing | 0.035 | N | 0.27 | neutral | None | None | None | None | N |
| G/T | 0.1039 | likely_benign | 0.1227 | benign | -0.696 | Destabilizing | 0.149 | N | 0.281 | neutral | None | None | None | None | N |
| G/V | 0.1221 | likely_benign | 0.1481 | benign | -0.292 | Destabilizing | 0.317 | N | 0.417 | neutral | N | 0.460611126 | None | None | N |
| G/W | 0.2279 | likely_benign | 0.2604 | benign | -1.085 | Destabilizing | 0.935 | D | 0.445 | neutral | None | None | None | None | N |
| G/Y | 0.2241 | likely_benign | 0.304 | benign | -0.744 | Destabilizing | 0.791 | D | 0.388 | neutral | 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.