Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33182 | 99769;99770;99771 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| N2AB | 31541 | 94846;94847;94848 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| N2A | 30614 | 92065;92066;92067 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| N2B | 24117 | 72574;72575;72576 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| Novex-1 | 24242 | 72949;72950;72951 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| Novex-2 | 24309 | 73150;73151;73152 | chr2:178537663;178537662;178537661 | chr2:179402390;179402389;179402388 |
| 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 | rs1060500530  |
-0.692 | 0.001 | N | 0.126 | 0.126 | 0.42264334713 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| V/I | rs1060500530 |
-0.692 | 0.001 | N | 0.126 | 0.126 | 0.42264334713 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| V/I | rs1060500530 |
-0.692 | 0.001 | N | 0.126 | 0.126 | 0.42264334713 | gnomAD-4.0.0 | 2.47879E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.12471E-05 | 0 | 1.69519E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1053 | likely_benign | 0.1167 | benign | -1.231 | Destabilizing | 0.576 | D | 0.413 | neutral | N | 0.440205311 | None | None | N |
| V/C | 0.5923 | likely_pathogenic | 0.6854 | pathogenic | -0.862 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| V/D | 0.4232 | ambiguous | 0.5019 | ambiguous | -0.9 | Destabilizing | 0.987 | D | 0.682 | prob.neutral | None | None | None | None | N |
| V/E | 0.3246 | likely_benign | 0.3853 | ambiguous | -0.906 | Destabilizing | 0.902 | D | 0.619 | neutral | N | 0.484073395 | None | None | N |
| V/F | 0.2124 | likely_benign | 0.3306 | benign | -0.873 | Destabilizing | 0.983 | D | 0.573 | neutral | None | None | None | None | N |
| V/G | 0.24 | likely_benign | 0.3107 | benign | -1.535 | Destabilizing | 0.987 | D | 0.645 | neutral | N | 0.505535466 | None | None | N |
| V/H | 0.5876 | likely_pathogenic | 0.7016 | pathogenic | -0.995 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/I | 0.0693 | likely_benign | 0.0838 | benign | -0.507 | Destabilizing | 0.001 | N | 0.126 | neutral | N | 0.517226087 | None | None | N |
| V/K | 0.3481 | ambiguous | 0.368 | ambiguous | -1.052 | Destabilizing | 0.964 | D | 0.627 | neutral | None | None | None | None | N |
| V/L | 0.1804 | likely_benign | 0.2524 | benign | -0.507 | Destabilizing | 0.084 | N | 0.366 | neutral | N | 0.489633257 | None | None | N |
| V/M | 0.1078 | likely_benign | 0.1553 | benign | -0.459 | Destabilizing | 0.976 | D | 0.513 | neutral | None | None | None | None | N |
| V/N | 0.2677 | likely_benign | 0.3348 | benign | -0.84 | Destabilizing | 0.798 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/P | 0.9511 | likely_pathogenic | 0.9729 | pathogenic | -0.712 | Destabilizing | 0.889 | D | 0.678 | prob.neutral | None | None | None | None | N |
| V/Q | 0.3468 | ambiguous | 0.3983 | ambiguous | -0.999 | Destabilizing | 0.974 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/R | 0.2978 | likely_benign | 0.3473 | ambiguous | -0.541 | Destabilizing | 0.983 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/S | 0.1706 | likely_benign | 0.2069 | benign | -1.365 | Destabilizing | 0.813 | D | 0.603 | neutral | None | None | None | None | N |
| V/T | 0.083 | likely_benign | 0.0857 | benign | -1.26 | Destabilizing | 0.011 | N | 0.274 | neutral | None | None | None | None | N |
| V/W | 0.7923 | likely_pathogenic | 0.91 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| V/Y | 0.5673 | likely_pathogenic | 0.7088 | pathogenic | -0.748 | Destabilizing | 0.997 | D | 0.575 | 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.