Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30376 | 91351;91352;91353 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| N2AB | 28735 | 86428;86429;86430 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| N2A | 27808 | 83647;83648;83649 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| N2B | 21311 | 64156;64157;64158 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| Novex-1 | 21436 | 64531;64532;64533 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| Novex-2 | 21503 | 64732;64733;64734 | chr2:178551774;178551773;178551772 | chr2:179416501;179416500;179416499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1380978634  |
0.227 | None | N | 0.17 | 0.115 | 0.0482279557977 | 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 |
| T/I | rs1380978634 |
0.227 | None | N | 0.17 | 0.115 | 0.0482279557977 | gnomAD-4.0.0 | 6.36476E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 8.57432E-06 | 0 | 0 |
| T/R | rs1380978634 |
None | 0.171 | N | 0.293 | 0.135 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs1380978634 |
None | 0.171 | N | 0.293 | 0.135 | 0.0666544352282 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0622 | likely_benign | 0.0629 | benign | -0.167 | Destabilizing | 0.005 | N | 0.165 | neutral | N | 0.485078304 | None | None | N |
| T/C | 0.2202 | likely_benign | 0.2613 | benign | -0.309 | Destabilizing | 0.628 | D | 0.19 | neutral | None | None | None | None | N |
| T/D | 0.3064 | likely_benign | 0.3105 | benign | -0.031 | Destabilizing | 0.038 | N | 0.253 | neutral | None | None | None | None | N |
| T/E | 0.2689 | likely_benign | 0.2712 | benign | -0.128 | Destabilizing | 0.072 | N | 0.263 | neutral | None | None | None | None | N |
| T/F | 0.1377 | likely_benign | 0.1743 | benign | -0.838 | Destabilizing | 0.12 | N | 0.293 | neutral | None | None | None | None | N |
| T/G | 0.119 | likely_benign | 0.1327 | benign | -0.216 | Destabilizing | 0.031 | N | 0.261 | neutral | None | None | None | None | N |
| T/H | 0.1648 | likely_benign | 0.1814 | benign | -0.379 | Destabilizing | 0.356 | N | 0.195 | neutral | None | None | None | None | N |
| T/I | 0.0806 | likely_benign | 0.0964 | benign | -0.159 | Destabilizing | None | N | 0.17 | neutral | N | 0.489406689 | None | None | N |
| T/K | 0.1614 | likely_benign | 0.1694 | benign | -0.264 | Destabilizing | 0.055 | N | 0.269 | neutral | N | 0.416335869 | None | None | N |
| T/L | 0.0597 | likely_benign | 0.0695 | benign | -0.159 | Destabilizing | None | N | 0.118 | neutral | None | None | None | None | N |
| T/M | 0.0702 | likely_benign | 0.075 | benign | -0.132 | Destabilizing | 0.002 | N | 0.212 | neutral | None | None | None | None | N |
| T/N | 0.0801 | likely_benign | 0.0832 | benign | -0.031 | Destabilizing | 0.001 | N | 0.178 | neutral | None | None | None | None | N |
| T/P | 0.0778 | likely_benign | 0.0816 | benign | -0.138 | Destabilizing | 0.295 | N | 0.277 | neutral | N | 0.469650279 | None | None | N |
| T/Q | 0.1646 | likely_benign | 0.1772 | benign | -0.257 | Destabilizing | 0.214 | N | 0.269 | neutral | None | None | None | None | N |
| T/R | 0.1503 | likely_benign | 0.1622 | benign | 0.03 | Stabilizing | 0.171 | N | 0.293 | neutral | N | 0.477498971 | None | None | N |
| T/S | 0.0742 | likely_benign | 0.0755 | benign | -0.195 | Destabilizing | 0.001 | N | 0.123 | neutral | N | 0.446061343 | None | None | N |
| T/V | 0.0689 | likely_benign | 0.0785 | benign | -0.138 | Destabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| T/W | 0.4158 | ambiguous | 0.4954 | ambiguous | -0.923 | Destabilizing | 0.864 | D | 0.201 | neutral | None | None | None | None | N |
| T/Y | 0.1711 | likely_benign | 0.1996 | benign | -0.603 | Destabilizing | 0.356 | N | 0.245 | 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.