Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28404 | 85435;85436;85437 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| N2AB | 26763 | 80512;80513;80514 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| N2A | 25836 | 77731;77732;77733 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| N2B | 19339 | 58240;58241;58242 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| Novex-1 | 19464 | 58615;58616;58617 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| Novex-2 | 19531 | 58816;58817;58818 | chr2:178560922;178560921;178560920 | chr2:179425649;179425648;179425647 |
| 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 | rs368218177  |
0.18 | None | N | 0.265 | 0.092 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs368218177 |
0.18 | None | N | 0.265 | 0.092 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs368218177 |
0.18 | None | N | 0.265 | 0.092 | None | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | N | None | 1.74789E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20493E-06 | 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 | 0.1012 | likely_benign | 0.099 | benign | -0.922 | Destabilizing | 0.019 | N | 0.33 | neutral | N | 0.502869923 | None | None | N |
| T/C | 0.2865 | likely_benign | 0.2969 | benign | -0.745 | Destabilizing | None | N | 0.261 | neutral | None | None | None | None | N |
| T/D | 0.5599 | ambiguous | 0.5241 | ambiguous | -1.287 | Destabilizing | 0.364 | N | 0.549 | neutral | None | None | None | None | N |
| T/E | 0.3881 | ambiguous | 0.3695 | ambiguous | -1.164 | Destabilizing | 0.364 | N | 0.541 | neutral | None | None | None | None | N |
| T/F | 0.2325 | likely_benign | 0.2336 | benign | -0.519 | Destabilizing | 0.001 | N | 0.367 | neutral | None | None | None | None | N |
| T/G | 0.3029 | likely_benign | 0.2968 | benign | -1.306 | Destabilizing | 0.364 | N | 0.506 | neutral | None | None | None | None | N |
| T/H | 0.3236 | likely_benign | 0.3099 | benign | -1.587 | Destabilizing | 0.859 | D | 0.546 | neutral | None | None | None | None | N |
| T/I | 0.1255 | likely_benign | 0.1281 | benign | 0.055 | Stabilizing | None | N | 0.265 | neutral | N | 0.383330521 | None | None | N |
| T/K | 0.3024 | likely_benign | 0.2767 | benign | -1.008 | Destabilizing | 0.301 | N | 0.517 | neutral | D | 0.522591834 | None | None | N |
| T/L | 0.092 | likely_benign | 0.0891 | benign | 0.055 | Stabilizing | 0.009 | N | 0.325 | neutral | None | None | None | None | N |
| T/M | 0.0748 | likely_benign | 0.076 | benign | 0.175 | Stabilizing | 0.497 | N | 0.539 | neutral | None | None | None | None | N |
| T/N | 0.1954 | likely_benign | 0.1797 | benign | -1.368 | Destabilizing | 0.635 | D | 0.529 | neutral | None | None | None | None | N |
| T/P | 0.5513 | ambiguous | 0.4952 | ambiguous | -0.237 | Destabilizing | 0.822 | D | 0.569 | neutral | D | 0.522765193 | None | None | N |
| T/Q | 0.2935 | likely_benign | 0.2873 | benign | -1.27 | Destabilizing | 0.859 | D | 0.54 | neutral | None | None | None | None | N |
| T/R | 0.2374 | likely_benign | 0.2185 | benign | -1.054 | Destabilizing | 0.602 | D | 0.567 | neutral | N | 0.497637462 | None | None | N |
| T/S | 0.1519 | likely_benign | 0.1472 | benign | -1.533 | Destabilizing | 0.151 | N | 0.415 | neutral | N | 0.484958768 | None | None | N |
| T/V | 0.1024 | likely_benign | 0.1084 | benign | -0.237 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| T/W | 0.5178 | ambiguous | 0.5177 | ambiguous | -0.64 | Destabilizing | 0.958 | D | 0.545 | neutral | None | None | None | None | N |
| T/Y | 0.2381 | likely_benign | 0.2287 | benign | -0.346 | Destabilizing | 0.124 | N | 0.565 | 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.