Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31202 | 93829;93830;93831 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| N2AB | 29561 | 88906;88907;88908 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| N2A | 28634 | 86125;86126;86127 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| N2B | 22137 | 66634;66635;66636 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| Novex-1 | 22262 | 67009;67010;67011 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| Novex-2 | 22329 | 67210;67211;67212 | chr2:178548022;178548021;178548020 | chr2:179412749;179412748;179412747 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs868211733  |
-0.869 | 0.612 | N | 0.469 | 0.162 | 0.389904358541 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs868211733 |
-0.869 | 0.612 | N | 0.469 | 0.162 | 0.389904358541 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs868211733 |
-0.869 | 0.612 | N | 0.469 | 0.162 | 0.389904358541 | gnomAD-4.0.0 | 1.97195E-05 | None | None | None | None | N | None | 7.23938E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0784 | likely_benign | 0.0812 | benign | -0.27 | Destabilizing | None | N | 0.053 | neutral | N | 0.414484855 | None | None | N |
| S/C | 0.134 | likely_benign | 0.1216 | benign | -0.462 | Destabilizing | 0.002 | N | 0.396 | neutral | N | 0.491926919 | None | None | N |
| S/D | 0.6293 | likely_pathogenic | 0.5444 | ambiguous | 0.279 | Stabilizing | 0.373 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.7116 | likely_pathogenic | 0.642 | pathogenic | 0.184 | Stabilizing | 0.227 | N | 0.347 | neutral | None | None | None | None | N |
| S/F | 0.2954 | likely_benign | 0.2647 | benign | -1.01 | Destabilizing | 0.612 | D | 0.469 | neutral | N | 0.491406844 | None | None | N |
| S/G | 0.0971 | likely_benign | 0.0883 | benign | -0.325 | Destabilizing | 0.001 | N | 0.124 | neutral | None | None | None | None | N |
| S/H | 0.4961 | ambiguous | 0.4291 | ambiguous | -0.64 | Destabilizing | 0.96 | D | 0.32 | neutral | None | None | None | None | N |
| S/I | 0.2943 | likely_benign | 0.265 | benign | -0.259 | Destabilizing | 0.507 | D | 0.48 | neutral | None | None | None | None | N |
| S/K | 0.8581 | likely_pathogenic | 0.7966 | pathogenic | -0.338 | Destabilizing | 0.227 | N | 0.349 | neutral | None | None | None | None | N |
| S/L | 0.1276 | likely_benign | 0.1294 | benign | -0.259 | Destabilizing | 0.128 | N | 0.372 | neutral | None | None | None | None | N |
| S/M | 0.2855 | likely_benign | 0.2786 | benign | -0.293 | Destabilizing | 0.96 | D | 0.323 | neutral | None | None | None | None | N |
| S/N | 0.237 | likely_benign | 0.2196 | benign | -0.179 | Destabilizing | 0.373 | N | 0.462 | neutral | None | None | None | None | N |
| S/P | 0.3991 | ambiguous | 0.2998 | benign | -0.238 | Destabilizing | 0.612 | D | 0.395 | neutral | N | 0.448386785 | None | None | N |
| S/Q | 0.6193 | likely_pathogenic | 0.5748 | pathogenic | -0.344 | Destabilizing | 0.676 | D | 0.378 | neutral | None | None | None | None | N |
| S/R | 0.7701 | likely_pathogenic | 0.689 | pathogenic | -0.141 | Destabilizing | 0.676 | D | 0.393 | neutral | None | None | None | None | N |
| S/T | 0.0984 | likely_benign | 0.0942 | benign | -0.282 | Destabilizing | 0.181 | N | 0.415 | neutral | N | 0.390818562 | None | None | N |
| S/V | 0.2456 | likely_benign | 0.2292 | benign | -0.238 | Destabilizing | 0.128 | N | 0.417 | neutral | None | None | None | None | N |
| S/W | 0.5237 | ambiguous | 0.438 | ambiguous | -1.085 | Destabilizing | 0.96 | D | 0.603 | neutral | None | None | None | None | N |
| S/Y | 0.2987 | likely_benign | 0.2595 | benign | -0.764 | Destabilizing | 0.828 | D | 0.471 | neutral | N | 0.491060127 | 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.