Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14750 | 44473;44474;44475 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| N2AB | 13109 | 39550;39551;39552 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| N2A | 12182 | 36769;36770;36771 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| N2B | 5685 | 17278;17279;17280 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| Novex-1 | 5810 | 17653;17654;17655 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| Novex-2 | 5877 | 17854;17855;17856 | chr2:178630274;178630273;178630272 | chr2:179495001;179495000;179494999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1299201088  |
-0.288 | 0.999 | D | 0.789 | 0.584 | 0.279370189704 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/H | rs1299201088 |
-0.288 | 0.999 | D | 0.789 | 0.584 | 0.279370189704 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | rs1299201088 |
-0.288 | 0.999 | D | 0.789 | 0.584 | 0.279370189704 | gnomAD-4.0.0 | 1.31496E-05 | None | None | None | None | N | None | 4.82486E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs767633080 |
0.284 | 0.997 | N | 0.619 | 0.448 | 0.194818534648 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.89E-06 | 0 |
| N/S | rs767633080 |
0.284 | 0.997 | N | 0.619 | 0.448 | 0.194818534648 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs767633080 |
0.284 | 0.997 | N | 0.619 | 0.448 | 0.194818534648 | gnomAD-4.0.0 | 5.57919E-06 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 0 | 4.46768E-05 | None | 0 | 1.64582E-04 | 4.23919E-06 | 0 | 0 |
| N/Y | None | None | 1.0 | D | 0.753 | 0.61 | 0.618843267604 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4939 | ambiguous | 0.4827 | ambiguous | -0.123 | Destabilizing | 0.999 | D | 0.659 | prob.neutral | None | None | None | None | N |
| N/C | 0.6728 | likely_pathogenic | 0.7074 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/D | 0.2366 | likely_benign | 0.2871 | benign | 0.176 | Stabilizing | 0.997 | D | 0.694 | prob.delet. | N | 0.504234925 | None | None | N |
| N/E | 0.7143 | likely_pathogenic | 0.7573 | pathogenic | 0.135 | Stabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | N |
| N/F | 0.8308 | likely_pathogenic | 0.8376 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/G | 0.3832 | ambiguous | 0.4027 | ambiguous | -0.263 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| N/H | 0.2442 | likely_benign | 0.2596 | benign | -0.281 | Destabilizing | 0.999 | D | 0.789 | deleterious | D | 0.592840377 | None | None | N |
| N/I | 0.6539 | likely_pathogenic | 0.6603 | pathogenic | 0.148 | Stabilizing | 0.999 | D | 0.777 | deleterious | D | 0.594666223 | None | None | N |
| N/K | 0.5545 | ambiguous | 0.6208 | pathogenic | 0.127 | Stabilizing | 0.999 | D | 0.764 | deleterious | N | 0.462443779 | None | None | N |
| N/L | 0.5948 | likely_pathogenic | 0.591 | pathogenic | 0.148 | Stabilizing | 0.999 | D | 0.7 | prob.delet. | None | None | None | None | N |
| N/M | 0.6788 | likely_pathogenic | 0.6852 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/P | 0.8757 | likely_pathogenic | 0.87 | pathogenic | 0.083 | Stabilizing | 0.999 | D | 0.737 | deleterious | None | None | None | None | N |
| N/Q | 0.6676 | likely_pathogenic | 0.6956 | pathogenic | -0.254 | Destabilizing | 0.999 | D | 0.738 | deleterious | None | None | None | None | N |
| N/R | 0.6017 | likely_pathogenic | 0.6457 | pathogenic | 0.161 | Stabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| N/S | 0.1234 | likely_benign | 0.1197 | benign | -0.048 | Destabilizing | 0.997 | D | 0.619 | neutral | N | 0.490344588 | None | None | N |
| N/T | 0.2625 | likely_benign | 0.2859 | benign | 0.041 | Stabilizing | 0.997 | D | 0.749 | deleterious | N | 0.449432962 | None | None | N |
| N/V | 0.6228 | likely_pathogenic | 0.5998 | pathogenic | 0.083 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/W | 0.9488 | likely_pathogenic | 0.954 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | N |
| N/Y | 0.4116 | ambiguous | 0.4316 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.593581325 | 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.