Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35133 | 105622;105623;105624 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| N2AB | 33492 | 100699;100700;100701 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| N2A | 32565 | 97918;97919;97920 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| N2B | 26068 | 78427;78428;78429 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| Novex-1 | 26193 | 78802;78803;78804 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| Novex-2 | 26260 | 79003;79004;79005 | chr2:178531218;178531217;178531216 | chr2:179395945;179395944;179395943 |
| 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 | rs1391236798  |
None | 0.999 | N | 0.499 | 0.374 | 0.345405024496 | 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/A | rs1391236798 |
None | 0.999 | N | 0.499 | 0.374 | 0.345405024496 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47054E-05 | 0 | 0 |
| T/P | rs1391236798 |
-0.503 | 1.0 | N | 0.757 | 0.64 | 0.447213685739 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs1391236798 |
-0.503 | 1.0 | N | 0.757 | 0.64 | 0.447213685739 | 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/P | rs1391236798 |
-0.503 | 1.0 | N | 0.757 | 0.64 | 0.447213685739 | gnomAD-4.0.0 | 3.09814E-06 | None | None | None | None | N | None | 4.00384E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19568E-05 | 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 | 0.2509 | likely_benign | 0.2475 | benign | -0.706 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.49734946 | None | None | N |
| T/C | 0.791 | likely_pathogenic | 0.7998 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.8364 | likely_pathogenic | 0.8469 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/E | 0.6867 | likely_pathogenic | 0.7052 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/F | 0.7026 | likely_pathogenic | 0.7278 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/G | 0.567 | likely_pathogenic | 0.5611 | ambiguous | -0.923 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/H | 0.5708 | likely_pathogenic | 0.6151 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/I | 0.6322 | likely_pathogenic | 0.636 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.476608829 | None | None | N |
| T/K | 0.5311 | ambiguous | 0.535 | ambiguous | -0.687 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.464159606 | None | None | N |
| T/L | 0.3265 | likely_benign | 0.2874 | benign | -0.231 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| T/M | 0.2306 | likely_benign | 0.227 | benign | 0.1 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/N | 0.3683 | ambiguous | 0.35 | ambiguous | -0.529 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/P | 0.6992 | likely_pathogenic | 0.777 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.5193036 | None | None | N |
| T/Q | 0.4528 | ambiguous | 0.4646 | ambiguous | -0.739 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/R | 0.4136 | ambiguous | 0.4183 | ambiguous | -0.393 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.459388505 | None | None | N |
| T/S | 0.2518 | likely_benign | 0.2558 | benign | -0.788 | Destabilizing | 0.999 | D | 0.495 | neutral | N | 0.452097173 | None | None | N |
| T/V | 0.4742 | ambiguous | 0.4666 | ambiguous | -0.358 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | N |
| T/W | 0.881 | likely_pathogenic | 0.908 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/Y | 0.7335 | likely_pathogenic | 0.7553 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.757 | deleterious | 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.