Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30381 | 91366;91367;91368 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| N2AB | 28740 | 86443;86444;86445 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| N2A | 27813 | 83662;83663;83664 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| N2B | 21316 | 64171;64172;64173 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| Novex-1 | 21441 | 64546;64547;64548 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| Novex-2 | 21508 | 64747;64748;64749 | chr2:178551759;178551758;178551757 | chr2:179416486;179416485;179416484 |
| 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 | rs1411459280  |
0.099 | 0.008 | N | 0.273 | 0.078 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/A | rs1411459280 |
0.099 | 0.008 | N | 0.273 | 0.078 | 0.144782658237 | gnomAD-4.0.0 | 6.36462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14324E-05 | 0 | 0 |
| G/E | None | None | 0.722 | N | 0.553 | 0.215 | 0.263612267334 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| G/R | rs779339354 |
-0.304 | 0.901 | N | 0.621 | 0.211 | 0.389439708392 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs779339354 |
-0.304 | 0.901 | N | 0.621 | 0.211 | 0.389439708392 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | 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 | 0.1001 | likely_benign | 0.1093 | benign | -0.322 | Destabilizing | 0.008 | N | 0.273 | neutral | N | 0.399942264 | None | None | N |
| G/C | 0.1276 | likely_benign | 0.1407 | benign | -0.609 | Destabilizing | 0.989 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/D | 0.2313 | likely_benign | 0.2476 | benign | -0.446 | Destabilizing | 0.633 | D | 0.511 | neutral | None | None | None | None | N |
| G/E | 0.2065 | likely_benign | 0.2099 | benign | -0.432 | Destabilizing | 0.722 | D | 0.553 | neutral | N | 0.376257328 | None | None | N |
| G/F | 0.3837 | ambiguous | 0.4305 | ambiguous | -0.566 | Destabilizing | 0.961 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/H | 0.2549 | likely_benign | 0.2767 | benign | -0.816 | Destabilizing | 0.989 | D | 0.655 | neutral | None | None | None | None | N |
| G/I | 0.2011 | likely_benign | 0.2236 | benign | 0.185 | Stabilizing | 0.923 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/K | 0.3088 | likely_benign | 0.3287 | benign | -0.67 | Destabilizing | 0.775 | D | 0.554 | neutral | None | None | None | None | N |
| G/L | 0.2419 | likely_benign | 0.2615 | benign | 0.185 | Stabilizing | 0.858 | D | 0.596 | neutral | None | None | None | None | N |
| G/M | 0.3021 | likely_benign | 0.3312 | benign | -0.128 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/N | 0.1742 | likely_benign | 0.1892 | benign | -0.561 | Destabilizing | 0.005 | N | 0.126 | neutral | None | None | None | None | N |
| G/P | 0.7755 | likely_pathogenic | 0.8246 | pathogenic | 0.058 | Stabilizing | 0.961 | D | 0.636 | neutral | None | None | None | None | N |
| G/Q | 0.218 | likely_benign | 0.2314 | benign | -0.574 | Destabilizing | 0.961 | D | 0.646 | neutral | None | None | None | None | N |
| G/R | 0.2278 | likely_benign | 0.2481 | benign | -0.571 | Destabilizing | 0.901 | D | 0.621 | neutral | N | 0.436767069 | None | None | N |
| G/S | 0.0732 | likely_benign | 0.0782 | benign | -0.882 | Destabilizing | 0.044 | N | 0.22 | neutral | None | None | None | None | N |
| G/T | 0.1135 | likely_benign | 0.1169 | benign | -0.75 | Destabilizing | 0.633 | D | 0.579 | neutral | None | None | None | None | N |
| G/V | 0.1378 | likely_benign | 0.1486 | benign | 0.058 | Stabilizing | 0.82 | D | 0.609 | neutral | N | 0.421202971 | None | None | N |
| G/W | 0.3283 | likely_benign | 0.3647 | ambiguous | -1.0 | Destabilizing | 0.996 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/Y | 0.2863 | likely_benign | 0.326 | benign | -0.466 | Destabilizing | 0.987 | D | 0.697 | prob.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.