Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14788 | 44587;44588;44589 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| N2AB | 13147 | 39664;39665;39666 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| N2A | 12220 | 36883;36884;36885 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| N2B | 5723 | 17392;17393;17394 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| Novex-1 | 5848 | 17767;17768;17769 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| Novex-2 | 5915 | 17968;17969;17970 | chr2:178629363;178629362;178629361 | chr2:179494090;179494089;179494088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs2059491089  |
None | 0.999 | D | 0.607 | 0.498 | 0.814208784794 | gnomAD-4.0.0 | 3.18642E-06 | None | None | None | None | N | None | 0 | 2.28812E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02828E-05 |
| S/P | rs761110890 |
0.095 | 0.999 | D | 0.575 | 0.6 | 0.626983275866 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/P | rs761110890 |
0.095 | 0.999 | D | 0.575 | 0.6 | 0.626983275866 | gnomAD-4.0.0 | 6.84569E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99807E-07 | 0 | 0 |
| S/T | None | None | 0.543 | N | 0.269 | 0.246 | 0.379707525713 | gnomAD-4.0.0 | 6.84569E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99807E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4195 | ambiguous | 0.544 | ambiguous | -0.461 | Destabilizing | 0.973 | D | 0.325 | neutral | D | 0.556596464 | None | None | N |
| S/C | 0.5901 | likely_pathogenic | 0.7477 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.584 | neutral | D | 0.692343984 | None | None | N |
| S/D | 0.9021 | likely_pathogenic | 0.9355 | pathogenic | 0.493 | Stabilizing | 0.996 | D | 0.43 | neutral | None | None | None | None | N |
| S/E | 0.9699 | likely_pathogenic | 0.9818 | pathogenic | 0.5 | Stabilizing | 0.996 | D | 0.429 | neutral | None | None | None | None | N |
| S/F | 0.939 | likely_pathogenic | 0.966 | pathogenic | -0.78 | Destabilizing | 0.999 | D | 0.607 | neutral | D | 0.639331128 | None | None | N |
| S/G | 0.4426 | ambiguous | 0.5685 | pathogenic | -0.675 | Destabilizing | 0.996 | D | 0.374 | neutral | None | None | None | None | N |
| S/H | 0.9277 | likely_pathogenic | 0.9525 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | None | N |
| S/I | 0.7927 | likely_pathogenic | 0.8755 | pathogenic | -0.003 | Destabilizing | 0.998 | D | 0.608 | neutral | None | None | None | None | N |
| S/K | 0.9946 | likely_pathogenic | 0.9972 | pathogenic | -0.148 | Destabilizing | 0.996 | D | 0.43 | neutral | None | None | None | None | N |
| S/L | 0.6249 | likely_pathogenic | 0.7613 | pathogenic | -0.003 | Destabilizing | 0.992 | D | 0.486 | neutral | None | None | None | None | N |
| S/M | 0.771 | likely_pathogenic | 0.8551 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| S/N | 0.5443 | ambiguous | 0.6143 | pathogenic | -0.191 | Destabilizing | 0.996 | D | 0.436 | neutral | None | None | None | None | N |
| S/P | 0.9445 | likely_pathogenic | 0.9666 | pathogenic | -0.123 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.690610545 | None | None | N |
| S/Q | 0.9594 | likely_pathogenic | 0.976 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.55 | neutral | None | None | None | None | N |
| S/R | 0.9871 | likely_pathogenic | 0.9934 | pathogenic | -0.05 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| S/T | 0.2413 | likely_benign | 0.3442 | ambiguous | -0.253 | Destabilizing | 0.543 | D | 0.269 | neutral | N | 0.503310234 | None | None | N |
| S/V | 0.8242 | likely_pathogenic | 0.8929 | pathogenic | -0.123 | Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| S/W | 0.9438 | likely_pathogenic | 0.9642 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| S/Y | 0.8784 | likely_pathogenic | 0.9269 | pathogenic | -0.491 | Destabilizing | 0.999 | D | 0.613 | neutral | D | 0.668259345 | 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.