Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3207 | 9844;9845;9846 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| N2AB | 3207 | 9844;9845;9846 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| N2A | 3207 | 9844;9845;9846 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| N2B | 3161 | 9706;9707;9708 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| Novex-1 | 3161 | 9706;9707;9708 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| Novex-2 | 3161 | 9706;9707;9708 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
| Novex-3 | 3207 | 9844;9845;9846 | chr2:178766465;178766464;178766463 | chr2:179631192;179631191;179631190 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 1.0 | D | 0.815 | 0.802 | 0.728460520122 | gnomAD-4.0.0 | 1.59053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88168E-05 | 0 | 0 | 0 | 0 |
| I/M | rs750160721  |
-1.405 | 1.0 | D | 0.759 | 0.568 | 0.657556492978 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| I/M | rs750160721 |
-1.405 | 1.0 | D | 0.759 | 0.568 | 0.657556492978 | gnomAD-4.0.0 | 3.18107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71311E-06 | 0 | 0 |
| I/T | None | None | 1.0 | D | 0.819 | 0.882 | 0.839964794171 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9882 | likely_pathogenic | 0.9941 | pathogenic | -2.843 | Highly Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| I/C | 0.9889 | likely_pathogenic | 0.993 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| I/D | 0.9988 | likely_pathogenic | 0.9995 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| I/E | 0.9977 | likely_pathogenic | 0.9991 | pathogenic | -3.36 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/F | 0.6401 | likely_pathogenic | 0.7903 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.614765168 | None | None | N |
| I/G | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -3.327 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/H | 0.9903 | likely_pathogenic | 0.996 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/K | 0.9934 | likely_pathogenic | 0.9973 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/L | 0.3766 | ambiguous | 0.4711 | ambiguous | -1.442 | Destabilizing | 0.993 | D | 0.415 | neutral | D | 0.570637413 | None | None | N |
| I/M | 0.5946 | likely_pathogenic | 0.7209 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.654187992 | None | None | N |
| I/N | 0.9888 | likely_pathogenic | 0.9948 | pathogenic | -2.6 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.690454269 | None | None | N |
| I/P | 0.9976 | likely_pathogenic | 0.9988 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| I/Q | 0.9924 | likely_pathogenic | 0.9965 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| I/R | 0.9865 | likely_pathogenic | 0.994 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| I/S | 0.9841 | likely_pathogenic | 0.9921 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.690454269 | None | None | N |
| I/T | 0.9845 | likely_pathogenic | 0.9925 | pathogenic | -2.905 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.690614947 | None | None | N |
| I/V | 0.3085 | likely_benign | 0.3352 | benign | -1.893 | Destabilizing | 0.993 | D | 0.401 | neutral | D | 0.618203336 | None | None | N |
| I/W | 0.9885 | likely_pathogenic | 0.9953 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/Y | 0.9701 | likely_pathogenic | 0.9857 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.834 | 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.