Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25803 | 77632;77633;77634 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| N2AB | 24162 | 72709;72710;72711 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| N2A | 23235 | 69928;69929;69930 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| N2B | 16738 | 50437;50438;50439 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| Novex-1 | 16863 | 50812;50813;50814 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| Novex-2 | 16930 | 51013;51014;51015 | chr2:178568725;178568724;178568723 | chr2:179433452;179433451;179433450 |
| 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/E | rs1706938707  |
None | 0.549 | N | 0.495 | 0.111 | 0.202086224978 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| A/E | rs1706938707 |
None | 0.549 | N | 0.495 | 0.111 | 0.202086224978 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.41797E-05 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.016 | N | 0.249 | 0.03 | 0.0716867268079 | gnomAD-4.0.0 | 1.5926E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| A/V | rs1706938707 |
None | 0.379 | N | 0.423 | 0.061 | 0.171388866994 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1706938707 |
None | 0.379 | N | 0.423 | 0.061 | 0.171388866994 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4055 | ambiguous | 0.4385 | ambiguous | -0.75 | Destabilizing | 0.992 | D | 0.469 | neutral | None | None | None | None | N |
| A/D | 0.2624 | likely_benign | 0.2936 | benign | -0.557 | Destabilizing | 0.617 | D | 0.555 | neutral | None | None | None | None | N |
| A/E | 0.2562 | likely_benign | 0.2757 | benign | -0.59 | Destabilizing | 0.549 | D | 0.495 | neutral | N | 0.444143254 | None | None | N |
| A/F | 0.2892 | likely_benign | 0.2924 | benign | -0.73 | Destabilizing | 0.739 | D | 0.579 | neutral | None | None | None | None | N |
| A/G | 0.1242 | likely_benign | 0.1328 | benign | -0.649 | Destabilizing | 0.549 | D | 0.419 | neutral | N | 0.463075731 | None | None | N |
| A/H | 0.3691 | ambiguous | 0.4018 | ambiguous | -0.341 | Destabilizing | 0.012 | N | 0.387 | neutral | None | None | None | None | N |
| A/I | 0.1526 | likely_benign | 0.1422 | benign | -0.228 | Destabilizing | 0.447 | N | 0.505 | neutral | None | None | None | None | N |
| A/K | 0.3658 | ambiguous | 0.3857 | ambiguous | -0.59 | Destabilizing | 0.009 | N | 0.184 | neutral | None | None | None | None | N |
| A/L | 0.118 | likely_benign | 0.1145 | benign | -0.228 | Destabilizing | 0.005 | N | 0.236 | neutral | None | None | None | None | N |
| A/M | 0.1653 | likely_benign | 0.1613 | benign | -0.619 | Destabilizing | 0.85 | D | 0.511 | neutral | None | None | None | None | N |
| A/N | 0.1783 | likely_benign | 0.1892 | benign | -0.505 | Destabilizing | 0.617 | D | 0.564 | neutral | None | None | None | None | N |
| A/P | 0.1261 | likely_benign | 0.1281 | benign | -0.284 | Destabilizing | 0.004 | N | 0.281 | neutral | N | 0.418130088 | None | None | N |
| A/Q | 0.2607 | likely_benign | 0.2752 | benign | -0.615 | Destabilizing | 0.85 | D | 0.532 | neutral | None | None | None | None | N |
| A/R | 0.3389 | likely_benign | 0.3588 | ambiguous | -0.262 | Destabilizing | 0.447 | N | 0.505 | neutral | None | None | None | None | N |
| A/S | 0.0833 | likely_benign | 0.0868 | benign | -0.779 | Destabilizing | 0.201 | N | 0.454 | neutral | N | 0.398776323 | None | None | N |
| A/T | 0.074 | likely_benign | 0.0779 | benign | -0.712 | Destabilizing | 0.016 | N | 0.249 | neutral | N | 0.397256171 | None | None | N |
| A/V | 0.0901 | likely_benign | 0.084 | benign | -0.284 | Destabilizing | 0.379 | N | 0.423 | neutral | N | 0.460094141 | None | None | N |
| A/W | 0.6552 | likely_pathogenic | 0.6882 | pathogenic | -0.937 | Destabilizing | 0.992 | D | 0.601 | neutral | None | None | None | None | N |
| A/Y | 0.3738 | ambiguous | 0.3961 | ambiguous | -0.55 | Destabilizing | 0.85 | D | 0.572 | 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.