Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25395 | 76408;76409;76410 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| N2AB | 23754 | 71485;71486;71487 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| N2A | 22827 | 68704;68705;68706 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| N2B | 16330 | 49213;49214;49215 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| Novex-1 | 16455 | 49588;49589;49590 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| Novex-2 | 16522 | 49789;49790;49791 | chr2:178569949;178569948;178569947 | chr2:179434676;179434675;179434674 |
| 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 | rs1311650365  |
None | None | N | 0.125 | 0.109 | 0.198526703765 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1311650365 |
None | None | N | 0.125 | 0.109 | 0.198526703765 | gnomAD-4.0.0 | 6.578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47132E-05 | 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 | 0.2461 | likely_benign | 0.247 | benign | -0.726 | Destabilizing | 0.204 | N | 0.486 | neutral | None | None | None | None | N |
| A/D | 0.1532 | likely_benign | 0.131 | benign | -0.183 | Destabilizing | None | N | 0.391 | neutral | N | 0.386452892 | None | None | N |
| A/E | 0.15 | likely_benign | 0.1294 | benign | -0.279 | Destabilizing | 0.018 | N | 0.462 | neutral | None | None | None | None | N |
| A/F | 0.175 | likely_benign | 0.1546 | benign | -0.763 | Destabilizing | 0.112 | N | 0.627 | neutral | None | None | None | None | N |
| A/G | 0.0954 | likely_benign | 0.1007 | benign | -0.607 | Destabilizing | 0.011 | N | 0.251 | neutral | N | 0.434668127 | None | None | N |
| A/H | 0.2377 | likely_benign | 0.2101 | benign | -0.61 | Destabilizing | 0.439 | N | 0.452 | neutral | None | None | None | None | N |
| A/I | 0.0956 | likely_benign | 0.0889 | benign | -0.239 | Destabilizing | None | N | 0.162 | neutral | None | None | None | None | N |
| A/K | 0.2008 | likely_benign | 0.1658 | benign | -0.703 | Destabilizing | 0.035 | N | 0.508 | neutral | None | None | None | None | N |
| A/L | 0.0801 | likely_benign | 0.075 | benign | -0.239 | Destabilizing | 0.003 | N | 0.295 | neutral | None | None | None | None | N |
| A/M | 0.1205 | likely_benign | 0.1133 | benign | -0.354 | Destabilizing | 0.112 | N | 0.497 | neutral | None | None | None | None | N |
| A/N | 0.1207 | likely_benign | 0.1097 | benign | -0.384 | Destabilizing | 0.018 | N | 0.572 | neutral | None | None | None | None | N |
| A/P | 0.0833 | likely_benign | 0.0771 | benign | -0.272 | Destabilizing | 0.052 | N | 0.587 | neutral | N | 0.409252394 | None | None | N |
| A/Q | 0.1693 | likely_benign | 0.1504 | benign | -0.569 | Destabilizing | 0.204 | N | 0.637 | neutral | None | None | None | None | N |
| A/R | 0.2005 | likely_benign | 0.1687 | benign | -0.344 | Destabilizing | 0.112 | N | 0.642 | neutral | None | None | None | None | N |
| A/S | 0.0773 | likely_benign | 0.0751 | benign | -0.717 | Destabilizing | 0.006 | N | 0.263 | neutral | N | 0.39099192 | None | None | N |
| A/T | 0.0695 | likely_benign | 0.0668 | benign | -0.714 | Destabilizing | None | N | 0.089 | neutral | N | 0.451346946 | None | None | N |
| A/V | 0.0699 | likely_benign | 0.0667 | benign | -0.272 | Destabilizing | None | N | 0.125 | neutral | N | 0.382103078 | None | None | N |
| A/W | 0.4599 | ambiguous | 0.4303 | ambiguous | -0.972 | Destabilizing | 0.747 | D | 0.545 | neutral | None | None | None | None | N |
| A/Y | 0.2393 | likely_benign | 0.2252 | benign | -0.594 | Destabilizing | 0.204 | N | 0.575 | 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.