Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8708 | 26347;26348;26349 | chr2:178715064;178715063;178715062 | chr2:179579791;179579790;179579789 |
| N2AB | 8391 | 25396;25397;25398 | chr2:178715064;178715063;178715062 | chr2:179579791;179579790;179579789 |
| N2A | 7464 | 22615;22616;22617 | chr2:178715064;178715063;178715062 | chr2:179579791;179579790;179579789 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2077272281  |
None | 0.001 | N | 0.199 | 0.119 | 0.130388298395 | 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 |
| A/T | rs2077272281 |
None | 0.001 | N | 0.199 | 0.119 | 0.130388298395 | gnomAD-4.0.0 | 3.0988E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23852E-06 | 0 | 0 |
| A/V | rs770253655 |
-0.033 | 0.185 | N | 0.299 | 0.165 | 0.266843984389 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 1.73832E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs770253655 |
-0.033 | 0.185 | N | 0.299 | 0.165 | 0.266843984389 | gnomAD-4.0.0 | 9.54934E-06 | None | None | None | None | N | None | 0 | 1.37187E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3739 | ambiguous | 0.3916 | ambiguous | -0.72 | Destabilizing | 0.852 | D | 0.348 | neutral | None | None | None | None | N |
| A/D | 0.1894 | likely_benign | 0.249 | benign | -0.626 | Destabilizing | 0.177 | N | 0.387 | neutral | None | None | None | None | N |
| A/E | 0.2087 | likely_benign | 0.2433 | benign | -0.79 | Destabilizing | 0.102 | N | 0.343 | neutral | N | 0.443140389 | None | None | N |
| A/F | 0.2244 | likely_benign | 0.2432 | benign | -0.943 | Destabilizing | 0.851 | D | 0.384 | neutral | None | None | None | None | N |
| A/G | 0.1005 | likely_benign | 0.1013 | benign | -0.262 | Destabilizing | None | N | 0.12 | neutral | N | 0.464211882 | None | None | N |
| A/H | 0.3298 | likely_benign | 0.367 | ambiguous | -0.278 | Destabilizing | 0.956 | D | 0.357 | neutral | None | None | None | None | N |
| A/I | 0.1559 | likely_benign | 0.166 | benign | -0.377 | Destabilizing | 0.738 | D | 0.333 | neutral | None | None | None | None | N |
| A/K | 0.3068 | likely_benign | 0.374 | ambiguous | -0.603 | Destabilizing | 0.287 | N | 0.309 | neutral | None | None | None | None | N |
| A/L | 0.1182 | likely_benign | 0.1164 | benign | -0.377 | Destabilizing | 0.445 | N | 0.328 | neutral | None | None | None | None | N |
| A/M | 0.1417 | likely_benign | 0.1425 | benign | -0.385 | Destabilizing | 0.946 | D | 0.321 | neutral | None | None | None | None | N |
| A/N | 0.1449 | likely_benign | 0.153 | benign | -0.266 | Destabilizing | 0.012 | N | 0.374 | neutral | None | None | None | None | N |
| A/P | 0.1562 | likely_benign | 0.1631 | benign | -0.301 | Destabilizing | 0.535 | D | 0.332 | neutral | N | 0.46812483 | None | None | N |
| A/Q | 0.2504 | likely_benign | 0.2616 | benign | -0.575 | Destabilizing | 0.067 | N | 0.22 | neutral | None | None | None | None | N |
| A/R | 0.2852 | likely_benign | 0.3574 | ambiguous | -0.094 | Destabilizing | 0.738 | D | 0.317 | neutral | None | None | None | None | N |
| A/S | 0.0751 | likely_benign | 0.0745 | benign | -0.427 | Destabilizing | None | N | 0.091 | neutral | N | 0.425248062 | None | None | N |
| A/T | 0.0695 | likely_benign | 0.0711 | benign | -0.52 | Destabilizing | 0.001 | N | 0.199 | neutral | N | 0.463134446 | None | None | N |
| A/V | 0.0963 | likely_benign | 0.1016 | benign | -0.301 | Destabilizing | 0.185 | N | 0.299 | neutral | N | 0.460642865 | None | None | N |
| A/W | 0.5059 | ambiguous | 0.5609 | ambiguous | -1.063 | Destabilizing | 0.985 | D | 0.463 | neutral | None | None | None | None | N |
| A/Y | 0.321 | likely_benign | 0.3602 | ambiguous | -0.726 | Destabilizing | 0.851 | D | 0.38 | 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.