Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31731 | 95416;95417;95418 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| N2AB | 30090 | 90493;90494;90495 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| N2A | 29163 | 87712;87713;87714 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| N2B | 22666 | 68221;68222;68223 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| Novex-1 | 22791 | 68596;68597;68598 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| Novex-2 | 22858 | 68797;68798;68799 | chr2:178546045;178546044;178546043 | chr2:179410772;179410771;179410770 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs1364685585  |
-0.643 | None | N | 0.079 | 0.06 | 0.230578612272 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs1364685585 |
-0.643 | None | N | 0.079 | 0.06 | 0.230578612272 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02444E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.0973 | likely_benign | 0.1035 | benign | -1.262 | Destabilizing | 0.001 | N | 0.188 | neutral | None | None | None | None | N |
| L/C | 0.2733 | likely_benign | 0.3255 | benign | -1.043 | Destabilizing | 0.951 | D | 0.514 | neutral | None | None | None | None | N |
| L/D | 0.3326 | likely_benign | 0.3791 | ambiguous | -0.736 | Destabilizing | 0.264 | N | 0.493 | neutral | None | None | None | None | N |
| L/E | 0.1635 | likely_benign | 0.1747 | benign | -0.723 | Destabilizing | 0.01 | N | 0.406 | neutral | None | None | None | None | N |
| L/F | 0.0926 | likely_benign | 0.1134 | benign | -0.843 | Destabilizing | 0.002 | N | 0.22 | neutral | N | 0.505128289 | None | None | N |
| L/G | 0.246 | likely_benign | 0.291 | benign | -1.535 | Destabilizing | 0.264 | N | 0.463 | neutral | None | None | None | None | N |
| L/H | 0.1031 | likely_benign | 0.1221 | benign | -0.512 | Destabilizing | 0.655 | D | 0.485 | neutral | N | 0.440231449 | None | None | N |
| L/I | 0.072 | likely_benign | 0.08 | benign | -0.592 | Destabilizing | None | N | 0.079 | neutral | N | 0.442578321 | None | None | N |
| L/K | 0.1114 | likely_benign | 0.1173 | benign | -0.844 | Destabilizing | 0.264 | N | 0.478 | neutral | None | None | None | None | N |
| L/M | 0.0834 | likely_benign | 0.0897 | benign | -0.793 | Destabilizing | 0.716 | D | 0.473 | neutral | None | None | None | None | N |
| L/N | 0.1813 | likely_benign | 0.2103 | benign | -0.807 | Destabilizing | 0.716 | D | 0.581 | neutral | None | None | None | None | N |
| L/P | 0.0713 | likely_benign | 0.0672 | benign | -0.786 | Destabilizing | 0.794 | D | 0.581 | neutral | N | 0.264294473 | None | None | N |
| L/Q | 0.079 | likely_benign | 0.0843 | benign | -0.909 | Destabilizing | 0.01 | N | 0.341 | neutral | None | None | None | None | N |
| L/R | 0.0878 | likely_benign | 0.0998 | benign | -0.318 | Destabilizing | 0.213 | N | 0.571 | neutral | N | 0.416373154 | None | None | N |
| L/S | 0.1096 | likely_benign | 0.1305 | benign | -1.355 | Destabilizing | 0.129 | N | 0.429 | neutral | None | None | None | None | N |
| L/T | 0.1057 | likely_benign | 0.1194 | benign | -1.212 | Destabilizing | 0.418 | N | 0.417 | neutral | None | None | None | None | N |
| L/V | 0.0653 | likely_benign | 0.069 | benign | -0.786 | Destabilizing | 0.047 | N | 0.251 | neutral | N | 0.429475738 | None | None | N |
| L/W | 0.1683 | likely_benign | 0.2064 | benign | -0.848 | Destabilizing | 0.983 | D | 0.495 | neutral | None | None | None | None | N |
| L/Y | 0.1833 | likely_benign | 0.2212 | benign | -0.643 | Destabilizing | 0.264 | N | 0.577 | 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.