Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19440 | 58543;58544;58545 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| N2AB | 17799 | 53620;53621;53622 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| N2A | 16872 | 50839;50840;50841 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| N2B | 10375 | 31348;31349;31350 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| Novex-1 | 10500 | 31723;31724;31725 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| Novex-2 | 10567 | 31924;31925;31926 | chr2:178594075;178594074;178594073 | chr2:179458802;179458801;179458800 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs781642072  |
-0.613 | 0.001 | N | 0.269 | 0.153 | 0.353336612579 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | rs781642072 |
-0.613 | 0.001 | N | 0.269 | 0.153 | 0.353336612579 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3225 | likely_benign | 0.3019 | benign | -0.723 | Destabilizing | 0.132 | N | 0.401 | neutral | None | None | None | None | N |
| A/D | 0.1449 | likely_benign | 0.1503 | benign | -0.494 | Destabilizing | 0.001 | N | 0.327 | neutral | None | None | None | None | N |
| A/E | 0.1358 | likely_benign | 0.1528 | benign | -0.594 | Destabilizing | 0.001 | N | 0.269 | neutral | N | 0.442514898 | None | None | N |
| A/F | 0.1978 | likely_benign | 0.1745 | benign | -0.815 | Destabilizing | 0.018 | N | 0.489 | neutral | None | None | None | None | N |
| A/G | 0.1201 | likely_benign | 0.1172 | benign | -0.666 | Destabilizing | None | N | 0.221 | neutral | N | 0.401668353 | None | None | N |
| A/H | 0.2558 | likely_benign | 0.2347 | benign | -0.709 | Destabilizing | None | N | 0.237 | neutral | None | None | None | None | N |
| A/I | 0.1518 | likely_benign | 0.1317 | benign | -0.282 | Destabilizing | 0.002 | N | 0.397 | neutral | None | None | None | None | N |
| A/K | 0.2313 | likely_benign | 0.2467 | benign | -0.886 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| A/L | 0.1045 | likely_benign | 0.0993 | benign | -0.282 | Destabilizing | None | N | 0.3 | neutral | None | None | None | None | N |
| A/M | 0.1209 | likely_benign | 0.1118 | benign | -0.306 | Destabilizing | 0.041 | N | 0.499 | neutral | None | None | None | None | N |
| A/N | 0.1075 | likely_benign | 0.0989 | benign | -0.552 | Destabilizing | None | N | 0.237 | neutral | None | None | None | None | N |
| A/P | 0.3793 | ambiguous | 0.3955 | ambiguous | -0.319 | Destabilizing | 0.006 | N | 0.396 | neutral | N | 0.466413265 | None | None | N |
| A/Q | 0.1902 | likely_benign | 0.1864 | benign | -0.766 | Destabilizing | 0.002 | N | 0.397 | neutral | None | None | None | None | N |
| A/R | 0.2285 | likely_benign | 0.2358 | benign | -0.46 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| A/S | 0.0719 | likely_benign | 0.0696 | benign | -0.847 | Destabilizing | None | N | 0.151 | neutral | N | 0.395723815 | None | None | N |
| A/T | 0.058 | likely_benign | 0.0567 | benign | -0.858 | Destabilizing | None | N | 0.145 | neutral | N | 0.35834165 | None | None | N |
| A/V | 0.103 | likely_benign | 0.0932 | benign | -0.319 | Destabilizing | 0.001 | N | 0.269 | neutral | N | 0.447307429 | None | None | N |
| A/W | 0.5272 | ambiguous | 0.4791 | ambiguous | -1.045 | Destabilizing | 0.316 | N | 0.559 | neutral | None | None | None | None | N |
| A/Y | 0.252 | likely_benign | 0.2235 | benign | -0.676 | Destabilizing | 0.004 | N | 0.487 | 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.