Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8861 | 26806;26807;26808 | chr2:178714077;178714076;178714075 | chr2:179578804;179578803;179578802 |
| N2AB | 8544 | 25855;25856;25857 | chr2:178714077;178714076;178714075 | chr2:179578804;179578803;179578802 |
| N2A | 7617 | 23074;23075;23076 | chr2:178714077;178714076;178714075 | chr2:179578804;179578803;179578802 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs1432990460  |
-1.095 | 0.001 | N | 0.238 | 0.131 | 0.115124310173 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs1432990460 |
-1.095 | 0.001 | N | 0.238 | 0.131 | 0.115124310173 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85876E-06 | 0 | 0 |
| T/S | rs1419666616 |
-1.029 | 0.007 | N | 0.321 | 0.093 | 0.243398259712 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14916E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1419666616 |
-1.029 | 0.007 | N | 0.321 | 0.093 | 0.243398259712 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1419666616 |
-1.029 | 0.007 | N | 0.321 | 0.093 | 0.243398259712 | gnomAD-4.0.0 | 1.31473E-05 | None | None | None | None | N | None | 4.82928E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0649 | likely_benign | 0.064 | benign | -0.811 | Destabilizing | 0.001 | N | 0.238 | neutral | N | 0.425929292 | None | None | N |
| T/C | 0.3315 | likely_benign | 0.3709 | ambiguous | -0.351 | Destabilizing | 0.836 | D | 0.658 | neutral | None | None | None | None | N |
| T/D | 0.7598 | likely_pathogenic | 0.7529 | pathogenic | -0.016 | Destabilizing | 0.418 | N | 0.585 | neutral | None | None | None | None | N |
| T/E | 0.6239 | likely_pathogenic | 0.6243 | pathogenic | 0.118 | Stabilizing | 0.418 | N | 0.569 | neutral | None | None | None | None | N |
| T/F | 0.391 | ambiguous | 0.4329 | ambiguous | -0.763 | Destabilizing | 0.836 | D | 0.751 | deleterious | None | None | None | None | N |
| T/G | 0.2832 | likely_benign | 0.2764 | benign | -1.155 | Destabilizing | 0.129 | N | 0.627 | neutral | None | None | None | None | N |
| T/H | 0.4955 | ambiguous | 0.5005 | ambiguous | -1.13 | Destabilizing | 0.005 | N | 0.559 | neutral | None | None | None | None | N |
| T/I | 0.1792 | likely_benign | 0.2041 | benign | 0.058 | Stabilizing | 0.213 | N | 0.567 | neutral | N | 0.323545925 | None | None | N |
| T/K | 0.4578 | ambiguous | 0.4449 | ambiguous | 0.022 | Stabilizing | 0.264 | N | 0.589 | neutral | None | None | None | None | N |
| T/L | 0.1243 | likely_benign | 0.1333 | benign | 0.058 | Stabilizing | 0.129 | N | 0.541 | neutral | None | None | None | None | N |
| T/M | 0.1166 | likely_benign | 0.1276 | benign | -0.05 | Destabilizing | 0.836 | D | 0.66 | neutral | None | None | None | None | N |
| T/N | 0.3225 | likely_benign | 0.3298 | benign | -0.388 | Destabilizing | 0.213 | N | 0.53 | neutral | N | 0.499792332 | None | None | N |
| T/P | 0.1144 | likely_benign | 0.1195 | benign | -0.2 | Destabilizing | 0.002 | N | 0.436 | neutral | N | 0.429759031 | None | None | N |
| T/Q | 0.4286 | ambiguous | 0.4339 | ambiguous | -0.262 | Destabilizing | 0.716 | D | 0.662 | neutral | None | None | None | None | N |
| T/R | 0.3661 | ambiguous | 0.3683 | ambiguous | -0.063 | Destabilizing | 0.716 | D | 0.657 | neutral | None | None | None | None | N |
| T/S | 0.145 | likely_benign | 0.1504 | benign | -0.77 | Destabilizing | 0.007 | N | 0.321 | neutral | N | 0.48884462 | None | None | N |
| T/V | 0.1069 | likely_benign | 0.1154 | benign | -0.2 | Destabilizing | 0.004 | N | 0.266 | neutral | None | None | None | None | N |
| T/W | 0.7556 | likely_pathogenic | 0.792 | pathogenic | -0.804 | Destabilizing | 0.983 | D | 0.747 | deleterious | None | None | None | None | N |
| T/Y | 0.4689 | ambiguous | 0.4907 | ambiguous | -0.432 | Destabilizing | 0.716 | D | 0.737 | prob.delet. | 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.