Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7371 | 22336;22337;22338 | chr2:178722788;178722787;178722786 | chr2:179587515;179587514;179587513 |
| N2AB | 7054 | 21385;21386;21387 | chr2:178722788;178722787;178722786 | chr2:179587515;179587514;179587513 |
| N2A | 6127 | 18604;18605;18606 | chr2:178722788;178722787;178722786 | chr2:179587515;179587514;179587513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1381030080  |
-0.928 | 0.01 | N | 0.053 | 0.108 | 0.158396225186 | 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 |
| T/A | rs1381030080 |
-0.928 | 0.01 | N | 0.053 | 0.108 | 0.158396225186 | gnomAD-4.0.0 | 1.42567E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69552E-05 | 0 | 4.80692E-05 |
| T/I | rs794729626 |
0.348 | 0.01 | N | 0.157 | 0.136 | 0.267755039894 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 5.14E-05 | None | 0 | None | 4.01E-05 | 0 | 0 |
| T/I | rs794729626 |
0.348 | 0.01 | N | 0.157 | 0.136 | 0.267755039894 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 1.31182E-04 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs794729626 |
0.348 | 0.01 | N | 0.157 | 0.136 | 0.267755039894 | gnomAD-4.0.0 | 4.95917E-06 | None | None | None | None | N | None | 0 | 5.00567E-05 | None | 0 | 2.22965E-05 | None | 1.56406E-05 | 0 | 2.5433E-06 | 0 | 0 |
| T/N | None | None | 0.784 | N | 0.419 | 0.217 | 0.384752662912 | gnomAD-4.0.0 | 6.84397E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15974E-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 | 0.08 | likely_benign | 0.0958 | benign | -0.938 | Destabilizing | 0.01 | N | 0.053 | neutral | N | 0.457982995 | None | None | N |
| T/C | 0.3239 | likely_benign | 0.4335 | ambiguous | -0.408 | Destabilizing | 0.981 | D | 0.475 | neutral | None | None | None | None | N |
| T/D | 0.4549 | ambiguous | 0.6002 | pathogenic | -0.354 | Destabilizing | 0.828 | D | 0.495 | neutral | None | None | None | None | N |
| T/E | 0.3621 | ambiguous | 0.4801 | ambiguous | -0.23 | Destabilizing | 0.828 | D | 0.442 | neutral | None | None | None | None | N |
| T/F | 0.1758 | likely_benign | 0.2466 | benign | -0.718 | Destabilizing | 0.007 | N | 0.349 | neutral | None | None | None | None | N |
| T/G | 0.2181 | likely_benign | 0.3066 | benign | -1.306 | Destabilizing | 0.495 | N | 0.369 | neutral | None | None | None | None | N |
| T/H | 0.2418 | likely_benign | 0.3268 | benign | -1.411 | Destabilizing | 0.981 | D | 0.537 | neutral | None | None | None | None | N |
| T/I | 0.1075 | likely_benign | 0.1368 | benign | -0.005 | Destabilizing | 0.01 | N | 0.157 | neutral | N | 0.36406997 | None | None | N |
| T/K | 0.2376 | likely_benign | 0.3442 | ambiguous | -0.41 | Destabilizing | 0.704 | D | 0.448 | neutral | None | None | None | None | N |
| T/L | 0.0674 | likely_benign | 0.0777 | benign | -0.005 | Destabilizing | 0.001 | N | 0.138 | neutral | None | None | None | None | N |
| T/M | 0.0617 | likely_benign | 0.0652 | benign | 0.043 | Stabilizing | 0.037 | N | 0.187 | neutral | None | None | None | None | N |
| T/N | 0.1183 | likely_benign | 0.1563 | benign | -0.723 | Destabilizing | 0.784 | D | 0.419 | neutral | N | 0.488999336 | None | None | N |
| T/P | 0.1288 | likely_benign | 0.1743 | benign | -0.283 | Destabilizing | 0.784 | D | 0.529 | neutral | N | 0.483073441 | None | None | N |
| T/Q | 0.2314 | likely_benign | 0.3039 | benign | -0.613 | Destabilizing | 0.828 | D | 0.562 | neutral | None | None | None | None | N |
| T/R | 0.1913 | likely_benign | 0.2697 | benign | -0.485 | Destabilizing | 0.828 | D | 0.529 | neutral | None | None | None | None | N |
| T/S | 0.0972 | likely_benign | 0.1229 | benign | -1.045 | Destabilizing | 0.27 | N | 0.265 | neutral | N | 0.459927222 | None | None | N |
| T/V | 0.0995 | likely_benign | 0.1221 | benign | -0.283 | Destabilizing | 0.001 | N | 0.043 | neutral | None | None | None | None | N |
| T/W | 0.4468 | ambiguous | 0.584 | pathogenic | -0.77 | Destabilizing | 0.995 | D | 0.521 | neutral | None | None | None | None | N |
| T/Y | 0.1938 | likely_benign | 0.2718 | benign | -0.448 | Destabilizing | 0.543 | D | 0.539 | 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.