Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26202 | 78829;78830;78831 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| N2AB | 24561 | 73906;73907;73908 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| N2A | 23634 | 71125;71126;71127 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| N2B | 17137 | 51634;51635;51636 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| Novex-1 | 17262 | 52009;52010;52011 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| Novex-2 | 17329 | 52210;52211;52212 | chr2:178567528;178567527;178567526 | chr2:179432255;179432254;179432253 |
| 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 | None | None | 0.028 | N | 0.201 | 0.059 | 0.229924730088 | gnomAD-4.0.0 | 3.42548E-06 | None | None | None | None | N | None | 2.99509E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60015E-06 | 0 | 0 |
| T/P | rs1364192252  |
-0.187 | 0.979 | N | 0.413 | 0.233 | 0.266843984389 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| T/P | rs1364192252 |
-0.187 | 0.979 | N | 0.413 | 0.233 | 0.266843984389 | gnomAD-4.0.0 | 2.05572E-06 | None | None | None | None | N | None | 2.99527E-05 | 0 | None | 0 | 0 | None | 0 | 1.74034E-04 | 0 | 1.16675E-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 | 0.0853 | likely_benign | 0.0862 | benign | -0.684 | Destabilizing | 0.309 | N | 0.295 | neutral | N | 0.469676416 | None | None | N |
| T/C | 0.3897 | ambiguous | 0.3551 | ambiguous | -0.442 | Destabilizing | 0.996 | D | 0.379 | neutral | None | None | None | None | N |
| T/D | 0.5039 | ambiguous | 0.5478 | ambiguous | -0.002 | Destabilizing | 0.854 | D | 0.405 | neutral | None | None | None | None | N |
| T/E | 0.4144 | ambiguous | 0.456 | ambiguous | -0.045 | Destabilizing | 0.742 | D | 0.305 | neutral | None | None | None | None | N |
| T/F | 0.337 | likely_benign | 0.3543 | ambiguous | -0.962 | Destabilizing | 0.91 | D | 0.401 | neutral | None | None | None | None | N |
| T/G | 0.3127 | likely_benign | 0.3103 | benign | -0.88 | Destabilizing | 0.854 | D | 0.359 | neutral | None | None | None | None | N |
| T/H | 0.3678 | ambiguous | 0.3862 | ambiguous | -1.214 | Destabilizing | 0.996 | D | 0.354 | neutral | None | None | None | None | N |
| T/I | 0.14 | likely_benign | 0.1384 | benign | -0.268 | Destabilizing | 0.028 | N | 0.201 | neutral | N | 0.496150942 | None | None | N |
| T/K | 0.3424 | ambiguous | 0.3834 | ambiguous | -0.641 | Destabilizing | 0.028 | N | 0.291 | neutral | N | 0.498959173 | None | None | N |
| T/L | 0.1137 | likely_benign | 0.1183 | benign | -0.268 | Destabilizing | 0.206 | N | 0.299 | neutral | None | None | None | None | N |
| T/M | 0.0879 | likely_benign | 0.091 | benign | 0.017 | Stabilizing | 0.206 | N | 0.249 | neutral | None | None | None | None | N |
| T/N | 0.1564 | likely_benign | 0.1621 | benign | -0.476 | Destabilizing | 0.953 | D | 0.357 | neutral | None | None | None | None | N |
| T/P | 0.3385 | likely_benign | 0.3944 | ambiguous | -0.376 | Destabilizing | 0.979 | D | 0.413 | neutral | N | 0.475908955 | None | None | N |
| T/Q | 0.326 | likely_benign | 0.3449 | ambiguous | -0.697 | Destabilizing | 0.91 | D | 0.415 | neutral | None | None | None | None | N |
| T/R | 0.2861 | likely_benign | 0.3332 | benign | -0.383 | Destabilizing | 0.521 | D | 0.404 | neutral | N | 0.48987833 | None | None | N |
| T/S | 0.1389 | likely_benign | 0.1379 | benign | -0.741 | Destabilizing | 0.684 | D | 0.225 | neutral | N | 0.482506854 | None | None | N |
| T/V | 0.0998 | likely_benign | 0.0972 | benign | -0.376 | Destabilizing | 0.004 | N | 0.075 | neutral | None | None | None | None | N |
| T/W | 0.7274 | likely_pathogenic | 0.7364 | pathogenic | -0.894 | Destabilizing | 0.996 | D | 0.405 | neutral | None | None | None | None | N |
| T/Y | 0.3676 | ambiguous | 0.3777 | ambiguous | -0.656 | Destabilizing | 0.953 | D | 0.379 | 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.