Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2695 | 8308;8309;8310 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| N2AB | 2695 | 8308;8309;8310 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| N2A | 2695 | 8308;8309;8310 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| N2B | 2649 | 8170;8171;8172 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| Novex-1 | 2649 | 8170;8171;8172 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| Novex-2 | 2649 | 8170;8171;8172 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
| Novex-3 | 2695 | 8308;8309;8310 | chr2:178771244;178771243;178771242 | chr2:179635971;179635970;179635969 |
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 | None | None | 0.201 | N | 0.409 | 0.212 | 0.143124449307 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79861E-06 | 0 | 0 |
| T/S | rs780082683  |
-0.077 | 0.007 | N | 0.193 | 0.161 | 0.137902524267 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| T/S | rs780082683 |
-0.077 | 0.007 | N | 0.193 | 0.161 | 0.137902524267 | 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/S | rs780082683 |
-0.077 | 0.007 | N | 0.193 | 0.161 | 0.137902524267 | gnomAD-4.0.0 | 1.36307E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77963E-05 | 0 | 1.60041E-05 |
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 | 0.0814 | likely_benign | 0.0834 | benign | -0.135 | Destabilizing | 0.201 | N | 0.409 | neutral | N | 0.465838427 | None | None | N |
| T/C | 0.6164 | likely_pathogenic | 0.606 | pathogenic | -0.444 | Destabilizing | 0.992 | D | 0.401 | neutral | None | None | None | None | N |
| T/D | 0.2864 | likely_benign | 0.3098 | benign | -0.104 | Destabilizing | 0.447 | N | 0.406 | neutral | None | None | None | None | N |
| T/E | 0.3198 | likely_benign | 0.3405 | ambiguous | -0.195 | Destabilizing | 0.617 | D | 0.403 | neutral | None | None | None | None | N |
| T/F | 0.3459 | ambiguous | 0.3741 | ambiguous | -0.828 | Destabilizing | 0.92 | D | 0.433 | neutral | None | None | None | None | N |
| T/G | 0.1908 | likely_benign | 0.2042 | benign | -0.171 | Destabilizing | 0.25 | N | 0.381 | neutral | None | None | None | None | N |
| T/H | 0.3046 | likely_benign | 0.3183 | benign | -0.28 | Destabilizing | 0.92 | D | 0.43 | neutral | None | None | None | None | N |
| T/I | 0.3599 | ambiguous | 0.3673 | ambiguous | -0.16 | Destabilizing | 0.896 | D | 0.411 | neutral | D | 0.530605652 | None | None | N |
| T/K | 0.2603 | likely_benign | 0.2733 | benign | -0.317 | Destabilizing | 0.447 | N | 0.396 | neutral | None | None | None | None | N |
| T/L | 0.1723 | likely_benign | 0.1815 | benign | -0.16 | Destabilizing | 0.617 | D | 0.395 | neutral | None | None | None | None | N |
| T/M | 0.1561 | likely_benign | 0.1621 | benign | -0.242 | Destabilizing | 0.992 | D | 0.391 | neutral | None | None | None | None | N |
| T/N | 0.107 | likely_benign | 0.1131 | benign | -0.134 | Destabilizing | 0.007 | N | 0.199 | neutral | N | 0.368412288 | None | None | N |
| T/P | 0.1948 | likely_benign | 0.1873 | benign | -0.13 | Destabilizing | 0.896 | D | 0.413 | neutral | N | 0.510879594 | None | None | N |
| T/Q | 0.2814 | likely_benign | 0.2911 | benign | -0.324 | Destabilizing | 0.85 | D | 0.413 | neutral | None | None | None | None | N |
| T/R | 0.225 | likely_benign | 0.2305 | benign | -0.032 | Destabilizing | 0.85 | D | 0.425 | neutral | None | None | None | None | N |
| T/S | 0.087 | likely_benign | 0.0945 | benign | -0.285 | Destabilizing | 0.007 | N | 0.193 | neutral | N | 0.464060589 | None | None | N |
| T/V | 0.2538 | likely_benign | 0.2599 | benign | -0.13 | Destabilizing | 0.617 | D | 0.328 | neutral | None | None | None | None | N |
| T/W | 0.713 | likely_pathogenic | 0.7388 | pathogenic | -0.94 | Destabilizing | 0.992 | D | 0.503 | neutral | None | None | None | None | N |
| T/Y | 0.3642 | ambiguous | 0.3696 | ambiguous | -0.613 | Destabilizing | 0.972 | D | 0.431 | 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.