Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20671 | 62236;62237;62238 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| N2AB | 19030 | 57313;57314;57315 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| N2A | 18103 | 54532;54533;54534 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| N2B | 11606 | 35041;35042;35043 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| Novex-1 | 11731 | 35416;35417;35418 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| Novex-2 | 11798 | 35617;35618;35619 | chr2:178589714;178589713;178589712 | chr2:179454441;179454440;179454439 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 1.0 | N | 0.795 | 0.322 | 0.44318313171 | 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 |
| E/K | rs770684884  |
-0.44 | 0.999 | N | 0.702 | 0.339 | 0.332133492242 | gnomAD-2.1.1 | 1.77186E-04 | None | None | None | None | N | None | 0 | 1.27536E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs770684884 |
-0.44 | 0.999 | N | 0.702 | 0.339 | 0.332133492242 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96618E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs770684884 |
-0.44 | 0.999 | N | 0.702 | 0.339 | 0.332133492242 | gnomAD-4.0.0 | 3.47089E-05 | None | None | None | None | N | None | 0 | 9.0042E-04 | None | 0 | 0 | None | 0 | 0 | 8.47735E-07 | 0 | 1.60133E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2144 | likely_benign | 0.1842 | benign | -0.6 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.396435025 | None | None | N |
| E/C | 0.9156 | likely_pathogenic | 0.8512 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| E/D | 0.395 | ambiguous | 0.3339 | benign | -0.723 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.516788078 | None | None | N |
| E/F | 0.8888 | likely_pathogenic | 0.8164 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| E/G | 0.4779 | ambiguous | 0.3852 | ambiguous | -0.857 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.497932958 | None | None | N |
| E/H | 0.7874 | likely_pathogenic | 0.6974 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| E/I | 0.5208 | ambiguous | 0.4128 | ambiguous | 0.063 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| E/K | 0.3145 | likely_benign | 0.24 | benign | -0.048 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.434246839 | None | None | N |
| E/L | 0.6347 | likely_pathogenic | 0.5417 | ambiguous | 0.063 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/M | 0.6195 | likely_pathogenic | 0.5229 | ambiguous | 0.346 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| E/N | 0.614 | likely_pathogenic | 0.5066 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| E/P | 0.3572 | ambiguous | 0.3061 | benign | -0.137 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/Q | 0.2396 | likely_benign | 0.2137 | benign | -0.325 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.448850932 | None | None | N |
| E/R | 0.4953 | ambiguous | 0.4019 | ambiguous | 0.154 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/S | 0.417 | ambiguous | 0.3394 | benign | -0.567 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| E/T | 0.4806 | ambiguous | 0.3915 | ambiguous | -0.363 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/V | 0.3419 | ambiguous | 0.2694 | benign | -0.137 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.479173839 | None | None | N |
| E/W | 0.9783 | likely_pathogenic | 0.96 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| E/Y | 0.8609 | likely_pathogenic | 0.7763 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.844 | 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.