Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16310 | 49153;49154;49155 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| N2AB | 14669 | 44230;44231;44232 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| N2A | 13742 | 41449;41450;41451 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| N2B | 7245 | 21958;21959;21960 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| Novex-1 | 7370 | 22333;22334;22335 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| Novex-2 | 7437 | 22534;22535;22536 | chr2:178614586;178614585;178614584 | chr2:179479313;179479312;179479311 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1401698279  |
-0.156 | 0.002 | N | 0.175 | 0.065 | 0.407632638399 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66778E-04 |
| V/I | rs1401698279 |
-0.156 | 0.002 | N | 0.175 | 0.065 | 0.407632638399 | gnomAD-4.0.0 | 1.59407E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03104E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1352 | likely_benign | 0.1342 | benign | -0.464 | Destabilizing | 0.001 | N | 0.123 | neutral | N | 0.469583911 | None | None | N |
| V/C | 0.5808 | likely_pathogenic | 0.574 | pathogenic | -0.564 | Destabilizing | 0.836 | D | 0.344 | neutral | None | None | None | None | N |
| V/D | 0.2211 | likely_benign | 0.2398 | benign | -0.363 | Destabilizing | 0.351 | N | 0.381 | neutral | N | 0.426609179 | None | None | N |
| V/E | 0.1837 | likely_benign | 0.1833 | benign | -0.488 | Destabilizing | 0.129 | N | 0.271 | neutral | None | None | None | None | N |
| V/F | 0.1513 | likely_benign | 0.1589 | benign | -0.742 | Destabilizing | 0.655 | D | 0.42 | neutral | N | 0.47304655 | None | None | N |
| V/G | 0.1428 | likely_benign | 0.1407 | benign | -0.587 | Destabilizing | 0.101 | N | 0.324 | neutral | N | 0.454109105 | None | None | N |
| V/H | 0.2947 | likely_benign | 0.3039 | benign | -0.2 | Destabilizing | 0.836 | D | 0.402 | neutral | None | None | None | None | N |
| V/I | 0.0699 | likely_benign | 0.0693 | benign | -0.292 | Destabilizing | 0.002 | N | 0.175 | neutral | N | 0.479118562 | None | None | N |
| V/K | 0.1288 | likely_benign | 0.1328 | benign | -0.426 | Destabilizing | None | N | 0.137 | neutral | None | None | None | None | N |
| V/L | 0.1377 | likely_benign | 0.1395 | benign | -0.292 | Destabilizing | 0.017 | N | 0.22 | neutral | N | 0.480166955 | None | None | N |
| V/M | 0.1161 | likely_benign | 0.123 | benign | -0.289 | Destabilizing | 0.716 | D | 0.31 | neutral | None | None | None | None | N |
| V/N | 0.1148 | likely_benign | 0.129 | benign | -0.131 | Destabilizing | 0.418 | N | 0.397 | neutral | None | None | None | None | N |
| V/P | 0.6763 | likely_pathogenic | 0.6431 | pathogenic | -0.315 | Destabilizing | 0.593 | D | 0.396 | neutral | None | None | None | None | N |
| V/Q | 0.1551 | likely_benign | 0.1563 | benign | -0.401 | Destabilizing | 0.01 | N | 0.227 | neutral | None | None | None | None | N |
| V/R | 0.1663 | likely_benign | 0.1694 | benign | 0.113 | Stabilizing | 0.264 | N | 0.357 | neutral | None | None | None | None | N |
| V/S | 0.1229 | likely_benign | 0.1325 | benign | -0.47 | Destabilizing | 0.129 | N | 0.258 | neutral | None | None | None | None | N |
| V/T | 0.1043 | likely_benign | 0.1064 | benign | -0.497 | Destabilizing | 0.004 | N | 0.137 | neutral | None | None | None | None | N |
| V/W | 0.7514 | likely_pathogenic | 0.7509 | pathogenic | -0.818 | Destabilizing | 0.983 | D | 0.391 | neutral | None | None | None | None | N |
| V/Y | 0.418 | ambiguous | 0.4188 | ambiguous | -0.517 | Destabilizing | 0.836 | D | 0.411 | 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.