Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3371 | 10336;10337;10338 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| N2AB | 3371 | 10336;10337;10338 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| N2A | 3371 | 10336;10337;10338 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| N2B | 3325 | 10198;10199;10200 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| Novex-1 | 3325 | 10198;10199;10200 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| Novex-2 | 3325 | 10198;10199;10200 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
| Novex-3 | 3371 | 10336;10337;10338 | chr2:178764180;178764179;178764178 | chr2:179628907;179628906;179628905 |
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 | rs1060500429  |
None | 0.966 | N | 0.495 | 0.436 | 0.486135451721 | gnomAD-4.0.0 | 1.36818E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79867E-06 | 0 | 0 |
| T/R | rs1060500429 |
0.305 | 0.934 | N | 0.481 | 0.442 | 0.617803836188 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs1060500429 |
0.305 | 0.934 | N | 0.481 | 0.442 | 0.617803836188 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 0 | 0 |
| T/S | rs770930936 |
0.149 | 0.051 | N | 0.225 | 0.208 | 0.143124449307 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 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 | 0.1213 | likely_benign | 0.1409 | benign | -0.151 | Destabilizing | 0.454 | N | 0.373 | neutral | N | 0.497479576 | None | None | I |
| T/C | 0.754 | likely_pathogenic | 0.7361 | pathogenic | -0.317 | Destabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | I |
| T/D | 0.5041 | ambiguous | 0.5155 | ambiguous | -0.029 | Destabilizing | 0.016 | N | 0.288 | neutral | None | None | None | None | I |
| T/E | 0.3508 | ambiguous | 0.394 | ambiguous | -0.122 | Destabilizing | 0.029 | N | 0.271 | neutral | None | None | None | None | I |
| T/F | 0.5008 | ambiguous | 0.4921 | ambiguous | -0.803 | Destabilizing | 0.991 | D | 0.549 | neutral | None | None | None | None | I |
| T/G | 0.3533 | ambiguous | 0.3842 | ambiguous | -0.21 | Destabilizing | 0.728 | D | 0.523 | neutral | None | None | None | None | I |
| T/H | 0.4269 | ambiguous | 0.4481 | ambiguous | -0.346 | Destabilizing | 0.991 | D | 0.56 | neutral | None | None | None | None | I |
| T/I | 0.3519 | ambiguous | 0.3835 | ambiguous | -0.118 | Destabilizing | 0.966 | D | 0.495 | neutral | N | 0.493556673 | None | None | I |
| T/K | 0.2578 | likely_benign | 0.2974 | benign | -0.263 | Destabilizing | 0.801 | D | 0.436 | neutral | N | 0.493006237 | None | None | I |
| T/L | 0.1915 | likely_benign | 0.2009 | benign | -0.118 | Destabilizing | 0.842 | D | 0.445 | neutral | None | None | None | None | I |
| T/M | 0.1312 | likely_benign | 0.1347 | benign | -0.147 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | I |
| T/N | 0.178 | likely_benign | 0.1835 | benign | -0.019 | Destabilizing | 0.842 | D | 0.352 | neutral | None | None | None | None | I |
| T/P | 0.208 | likely_benign | 0.2464 | benign | -0.105 | Destabilizing | 0.966 | D | 0.481 | neutral | N | 0.510384599 | None | None | I |
| T/Q | 0.2884 | likely_benign | 0.3345 | benign | -0.245 | Destabilizing | 0.842 | D | 0.482 | neutral | None | None | None | None | I |
| T/R | 0.207 | likely_benign | 0.2324 | benign | 0.049 | Stabilizing | 0.934 | D | 0.481 | neutral | N | 0.504331562 | None | None | I |
| T/S | 0.1423 | likely_benign | 0.1563 | benign | -0.184 | Destabilizing | 0.051 | N | 0.225 | neutral | N | 0.447971222 | None | None | I |
| T/V | 0.2701 | likely_benign | 0.2964 | benign | -0.105 | Destabilizing | 0.842 | D | 0.353 | neutral | None | None | None | None | I |
| T/W | 0.7849 | likely_pathogenic | 0.7662 | pathogenic | -0.887 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | I |
| T/Y | 0.536 | ambiguous | 0.517 | ambiguous | -0.565 | Destabilizing | 0.991 | D | 0.557 | neutral | None | None | None | None | I |
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.