Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18707 | 56344;56345;56346 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| N2AB | 17066 | 51421;51422;51423 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| N2A | 16139 | 48640;48641;48642 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| N2B | 9642 | 29149;29150;29151 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| Novex-1 | 9767 | 29524;29525;29526 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| Novex-2 | 9834 | 29725;29726;29727 | chr2:178599782;178599781;178599780 | chr2:179464509;179464508;179464507 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.992 | N | 0.489 | 0.358 | 0.343788945184 | gnomAD-4.0.0 | 1.59679E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86538E-06 | 0 | 0 |
| K/T | rs770068370  |
-0.864 | 0.999 | D | 0.7 | 0.511 | 0.447609009685 | gnomAD-2.1.1 | 4.46E-05 | None | None | None | None | I | None | 0 | 2.05653E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 1.67785E-04 |
| K/T | rs770068370 |
-0.864 | 0.999 | D | 0.7 | 0.511 | 0.447609009685 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs770068370 |
-0.864 | 0.999 | D | 0.7 | 0.511 | 0.447609009685 | gnomAD-4.0.0 | 1.79864E-05 | None | None | None | None | I | None | 0 | 1.53249E-04 | None | 0 | 0 | None | 0 | 0 | 1.19899E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2857 | likely_benign | 0.2854 | benign | -0.195 | Destabilizing | 0.994 | D | 0.57 | neutral | None | None | None | None | I |
| K/C | 0.5833 | likely_pathogenic | 0.5935 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| K/D | 0.4898 | ambiguous | 0.5082 | ambiguous | -0.018 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | I |
| K/E | 0.169 | likely_benign | 0.1686 | benign | 0.039 | Stabilizing | 0.992 | D | 0.489 | neutral | N | 0.500061691 | None | None | I |
| K/F | 0.7094 | likely_pathogenic | 0.6972 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| K/G | 0.4171 | ambiguous | 0.4072 | ambiguous | -0.507 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | I |
| K/H | 0.2296 | likely_benign | 0.232 | benign | -0.906 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| K/I | 0.3188 | likely_benign | 0.3143 | benign | 0.582 | Stabilizing | 1.0 | D | 0.774 | deleterious | N | 0.49055831 | None | None | I |
| K/L | 0.3432 | ambiguous | 0.3326 | benign | 0.582 | Stabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | I |
| K/M | 0.2347 | likely_benign | 0.2295 | benign | 0.468 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| K/N | 0.3029 | likely_benign | 0.3202 | benign | -0.027 | Destabilizing | 0.999 | D | 0.671 | neutral | D | 0.523189267 | None | None | I |
| K/P | 0.8461 | likely_pathogenic | 0.8172 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| K/Q | 0.1313 | likely_benign | 0.1321 | benign | -0.177 | Destabilizing | 0.998 | D | 0.66 | neutral | N | 0.512260197 | None | None | I |
| K/R | 0.0805 | likely_benign | 0.0773 | benign | -0.37 | Destabilizing | 0.467 | N | 0.311 | neutral | N | 0.474357957 | None | None | I |
| K/S | 0.314 | likely_benign | 0.3267 | benign | -0.59 | Destabilizing | 0.997 | D | 0.568 | neutral | None | None | None | None | I |
| K/T | 0.125 | likely_benign | 0.1299 | benign | -0.353 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | D | 0.526130785 | None | None | I |
| K/V | 0.2623 | likely_benign | 0.2538 | benign | 0.354 | Stabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| K/W | 0.7166 | likely_pathogenic | 0.6867 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| K/Y | 0.5683 | likely_pathogenic | 0.5571 | ambiguous | 0.316 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
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.