Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29707 | 89344;89345;89346 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| N2AB | 28066 | 84421;84422;84423 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| N2A | 27139 | 81640;81641;81642 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| N2B | 20642 | 62149;62150;62151 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| Novex-1 | 20767 | 62524;62525;62526 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| Novex-2 | 20834 | 62725;62726;62727 | chr2:178553992;178553991;178553990 | chr2:179418719;179418718;179418717 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | D | 0.772 | 0.639 | 0.628150982837 | gnomAD-4.0.0 | 1.59287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8582E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9844 | likely_pathogenic | 0.9857 | pathogenic | -2.129 | Highly Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| R/C | 0.7624 | likely_pathogenic | 0.7611 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| R/D | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| R/E | 0.967 | likely_pathogenic | 0.9699 | pathogenic | -0.987 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/F | 0.9894 | likely_pathogenic | 0.9896 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| R/G | 0.9857 | likely_pathogenic | 0.987 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.558427928 | None | None | N |
| R/H | 0.3698 | ambiguous | 0.3629 | ambiguous | -2.092 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/I | 0.9659 | likely_pathogenic | 0.9676 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.518927735 | None | None | N |
| R/K | 0.4618 | ambiguous | 0.5197 | ambiguous | -1.111 | Destabilizing | 0.997 | D | 0.685 | prob.neutral | N | 0.501985115 | None | None | N |
| R/L | 0.9426 | likely_pathogenic | 0.9439 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/M | 0.9649 | likely_pathogenic | 0.968 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/N | 0.9907 | likely_pathogenic | 0.9918 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| R/Q | 0.4146 | ambiguous | 0.4465 | ambiguous | -1.166 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/S | 0.9898 | likely_pathogenic | 0.9909 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.515632372 | None | None | N |
| R/T | 0.9808 | likely_pathogenic | 0.9834 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.510303227 | None | None | N |
| R/V | 0.9683 | likely_pathogenic | 0.97 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| R/W | 0.8815 | likely_pathogenic | 0.8791 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| R/Y | 0.9611 | likely_pathogenic | 0.9643 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.863 | deleterious | 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.