Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30405 | 91438;91439;91440 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| N2AB | 28764 | 86515;86516;86517 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| N2A | 27837 | 83734;83735;83736 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| N2B | 21340 | 64243;64244;64245 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| Novex-1 | 21465 | 64618;64619;64620 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| Novex-2 | 21532 | 64819;64820;64821 | chr2:178551687;178551686;178551685 | chr2:179416414;179416413;179416412 |
| 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/P | rs774774999  |
-0.233 | 0.998 | D | 0.801 | 0.455 | 0.402471007487 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs774774999 |
-0.233 | 0.998 | D | 0.801 | 0.455 | 0.402471007487 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs774774999 |
-0.233 | 0.998 | D | 0.801 | 0.455 | 0.402471007487 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | I | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs771462119 |
-0.22 | 0.142 | N | 0.455 | 0.143 | 0.215109475489 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs771462119 |
-0.22 | 0.142 | N | 0.455 | 0.143 | 0.215109475489 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 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 | 0.6558 | likely_pathogenic | 0.6398 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| A/D | 0.9726 | likely_pathogenic | 0.9775 | pathogenic | -0.24 | Destabilizing | 0.998 | D | 0.837 | deleterious | N | 0.498298131 | None | None | I |
| A/E | 0.9357 | likely_pathogenic | 0.9438 | pathogenic | -0.391 | Destabilizing | 0.995 | D | 0.791 | deleterious | None | None | None | None | I |
| A/F | 0.74 | likely_pathogenic | 0.7547 | pathogenic | -0.871 | Destabilizing | 0.991 | D | 0.856 | deleterious | None | None | None | None | I |
| A/G | 0.4533 | ambiguous | 0.5 | ambiguous | -0.273 | Destabilizing | 0.979 | D | 0.653 | neutral | N | 0.483534784 | None | None | I |
| A/H | 0.9302 | likely_pathogenic | 0.9308 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| A/I | 0.5397 | ambiguous | 0.573 | pathogenic | -0.39 | Destabilizing | 0.839 | D | 0.722 | prob.delet. | None | None | None | None | I |
| A/K | 0.9671 | likely_pathogenic | 0.972 | pathogenic | -0.439 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | I |
| A/L | 0.5773 | likely_pathogenic | 0.6074 | pathogenic | -0.39 | Destabilizing | 0.938 | D | 0.589 | neutral | None | None | None | None | I |
| A/M | 0.6155 | likely_pathogenic | 0.6523 | pathogenic | -0.463 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | I |
| A/N | 0.914 | likely_pathogenic | 0.9191 | pathogenic | -0.227 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | I |
| A/P | 0.9656 | likely_pathogenic | 0.9684 | pathogenic | -0.315 | Destabilizing | 0.998 | D | 0.801 | deleterious | D | 0.532166464 | None | None | I |
| A/Q | 0.892 | likely_pathogenic | 0.8967 | pathogenic | -0.484 | Destabilizing | 0.998 | D | 0.816 | deleterious | None | None | None | None | I |
| A/R | 0.9113 | likely_pathogenic | 0.9133 | pathogenic | -0.025 | Destabilizing | 0.995 | D | 0.818 | deleterious | None | None | None | None | I |
| A/S | 0.2293 | likely_benign | 0.2394 | benign | -0.453 | Destabilizing | 0.958 | D | 0.644 | neutral | N | 0.480296008 | None | None | I |
| A/T | 0.4166 | ambiguous | 0.4408 | ambiguous | -0.521 | Destabilizing | 0.958 | D | 0.755 | deleterious | N | 0.513048251 | None | None | I |
| A/V | 0.2584 | likely_benign | 0.2719 | benign | -0.315 | Destabilizing | 0.142 | N | 0.455 | neutral | N | 0.502357343 | None | None | I |
| A/W | 0.9683 | likely_pathogenic | 0.9688 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| A/Y | 0.8913 | likely_pathogenic | 0.9008 | pathogenic | -0.633 | Destabilizing | 0.995 | D | 0.863 | deleterious | None | None | None | None | I |
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.