Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24267 | 73024;73025;73026 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| N2AB | 22626 | 68101;68102;68103 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| N2A | 21699 | 65320;65321;65322 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| N2B | 15202 | 45829;45830;45831 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| Novex-1 | 15327 | 46204;46205;46206 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| Novex-2 | 15394 | 46405;46406;46407 | chr2:178573333;178573332;178573331 | chr2:179438060;179438059;179438058 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.526 | N | 0.201 | 0.067 | 0.283371740733 | gnomAD-4.0.0 | 7.14629E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.24141E-07 | 0 | 0 |
| Q/R | rs1708915937  |
None | 0.061 | N | 0.265 | 0.105 | 0.191931220699 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1708915937 |
None | 0.061 | N | 0.265 | 0.105 | 0.191931220699 | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 0 | 6.54622E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1791 | likely_benign | 0.1814 | benign | -0.127 | Destabilizing | 0.036 | N | 0.253 | neutral | None | None | None | None | N |
| Q/C | 0.5169 | ambiguous | 0.4939 | ambiguous | -0.358 | Destabilizing | 0.901 | D | 0.217 | neutral | None | None | None | None | N |
| Q/D | 0.4686 | ambiguous | 0.4301 | ambiguous | -0.309 | Destabilizing | 0.08 | N | 0.237 | neutral | None | None | None | None | N |
| Q/E | 0.138 | likely_benign | 0.1211 | benign | -0.369 | Destabilizing | 0.028 | N | 0.173 | neutral | N | 0.431763894 | None | None | N |
| Q/F | 0.498 | ambiguous | 0.4764 | ambiguous | -0.592 | Destabilizing | 0.296 | N | 0.317 | neutral | None | None | None | None | N |
| Q/G | 0.2458 | likely_benign | 0.2292 | benign | -0.191 | Destabilizing | 0.08 | N | 0.218 | neutral | None | None | None | None | N |
| Q/H | 0.1948 | likely_benign | 0.1785 | benign | 0.044 | Stabilizing | 0.526 | D | 0.201 | neutral | N | 0.481926143 | None | None | N |
| Q/I | 0.2035 | likely_benign | 0.2075 | benign | -0.053 | Destabilizing | 0.001 | N | 0.156 | neutral | None | None | None | None | N |
| Q/K | 0.1421 | likely_benign | 0.1197 | benign | -0.169 | Destabilizing | None | N | 0.077 | neutral | N | 0.438962012 | None | None | N |
| Q/L | 0.0674 | likely_benign | 0.0709 | benign | -0.053 | Destabilizing | None | N | 0.153 | neutral | N | 0.385706318 | None | None | N |
| Q/M | 0.1921 | likely_benign | 0.2116 | benign | -0.134 | Destabilizing | 0.596 | D | 0.225 | neutral | None | None | None | None | N |
| Q/N | 0.2425 | likely_benign | 0.2328 | benign | -0.45 | Destabilizing | 0.001 | N | 0.095 | neutral | None | None | None | None | N |
| Q/P | 0.1223 | likely_benign | 0.117 | benign | -0.058 | Destabilizing | 0.391 | N | 0.305 | neutral | N | 0.452256597 | None | None | N |
| Q/R | 0.1612 | likely_benign | 0.1311 | benign | 0.036 | Stabilizing | 0.061 | N | 0.265 | neutral | N | 0.447370852 | None | None | N |
| Q/S | 0.1938 | likely_benign | 0.197 | benign | -0.42 | Destabilizing | 0.08 | N | 0.188 | neutral | None | None | None | None | N |
| Q/T | 0.1635 | likely_benign | 0.1737 | benign | -0.375 | Destabilizing | 0.148 | N | 0.312 | neutral | None | None | None | None | N |
| Q/V | 0.1394 | likely_benign | 0.1474 | benign | -0.058 | Destabilizing | 0.036 | N | 0.243 | neutral | None | None | None | None | N |
| Q/W | 0.5326 | ambiguous | 0.4675 | ambiguous | -0.692 | Destabilizing | 0.972 | D | 0.233 | neutral | None | None | None | None | N |
| Q/Y | 0.3677 | ambiguous | 0.3343 | benign | -0.4 | Destabilizing | 0.46 | N | 0.296 | 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.