Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34209 | 102850;102851;102852 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| N2AB | 32568 | 97927;97928;97929 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| N2A | 31641 | 95146;95147;95148 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| N2B | 25144 | 75655;75656;75657 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| Novex-1 | 25269 | 76030;76031;76032 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| Novex-2 | 25336 | 76231;76232;76233 | chr2:178533990;178533989;178533988 | chr2:179398717;179398716;179398715 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | D | 0.9 | 0.731 | 0.80271299889 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9883 | likely_pathogenic | 0.9882 | pathogenic | -1.597 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | disulfide | None | N |
| C/F | 0.955 | likely_pathogenic | 0.9542 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.523023248 | disulfide | None | N |
| C/G | 0.9666 | likely_pathogenic | 0.9611 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.524544185 | disulfide | None | N |
| C/H | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9801 | likely_pathogenic | 0.9815 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9568 | likely_pathogenic | 0.953 | pathogenic | -0.717 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9878 | likely_pathogenic | 0.9867 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | disulfide | None | N |
| C/N | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.524544185 | disulfide | None | N |
| C/S | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.524544185 | disulfide | None | N |
| C/T | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | disulfide | None | N |
| C/V | 0.962 | likely_pathogenic | 0.9634 | pathogenic | -0.992 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.524544185 | disulfide | None | N |
| C/Y | 0.9904 | likely_pathogenic | 0.9905 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.524544185 | disulfide | 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.