Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33675 | 101248;101249;101250 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| N2AB | 32034 | 96325;96326;96327 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| N2A | 31107 | 93544;93545;93546 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| N2B | 24610 | 74053;74054;74055 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| Novex-1 | 24735 | 74428;74429;74430 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| Novex-2 | 24802 | 74629;74630;74631 | chr2:178535592;178535591;178535590 | chr2:179400319;179400318;179400317 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | N | 0.685 | 0.581 | 0.742584921238 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.974 | likely_pathogenic | 0.9659 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| F/C | 0.9066 | likely_pathogenic | 0.9097 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.493240881 | None | None | N |
| F/D | 0.9943 | likely_pathogenic | 0.9882 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| F/E | 0.9955 | likely_pathogenic | 0.9917 | pathogenic | 0.455 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| F/G | 0.9887 | likely_pathogenic | 0.9857 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| F/H | 0.9274 | likely_pathogenic | 0.9009 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| F/I | 0.9291 | likely_pathogenic | 0.9076 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.455809482 | None | None | N |
| F/K | 0.995 | likely_pathogenic | 0.9917 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| F/L | 0.9899 | likely_pathogenic | 0.9852 | pathogenic | -0.467 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.445784489 | None | None | N |
| F/M | 0.9553 | likely_pathogenic | 0.943 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| F/N | 0.9693 | likely_pathogenic | 0.9512 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| F/Q | 0.9883 | likely_pathogenic | 0.982 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| F/R | 0.9869 | likely_pathogenic | 0.9799 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| F/S | 0.9644 | likely_pathogenic | 0.9499 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.471432295 | None | None | N |
| F/T | 0.9816 | likely_pathogenic | 0.9692 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| F/V | 0.9106 | likely_pathogenic | 0.8942 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.449131439 | None | None | N |
| F/W | 0.8518 | likely_pathogenic | 0.8251 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| F/Y | 0.4521 | ambiguous | 0.4178 | ambiguous | -0.365 | Destabilizing | 0.998 | D | 0.561 | neutral | N | 0.495559949 | 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.