Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3423 | 10492;10493;10494 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| N2AB | 3423 | 10492;10493;10494 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| N2A | 3423 | 10492;10493;10494 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| N2B | 3377 | 10354;10355;10356 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| Novex-1 | 3377 | 10354;10355;10356 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| Novex-2 | 3377 | 10354;10355;10356 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
| Novex-3 | 3423 | 10492;10493;10494 | chr2:178759020;178759019;178759018 | chr2:179623747;179623746;179623745 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1000268203  |
None | 1.0 | D | 0.873 | 0.667 | 0.676505548274 | gnomAD-4.0.0 | 1.5908E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85704E-06 | 0 | 0 |
| G/S | rs2088199501 |
None | 1.0 | D | 0.822 | 0.646 | 0.615566891949 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| G/S | rs2088199501 |
None | 1.0 | D | 0.822 | 0.646 | 0.615566891949 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| G/V | None | None | 1.0 | D | 0.853 | 0.742 | 0.952184408665 | gnomAD-4.0.0 | 1.5908E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6496 | likely_pathogenic | 0.7138 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.718068059 | None | None | I |
| G/C | 0.867 | likely_pathogenic | 0.8769 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.816530721 | None | None | I |
| G/D | 0.8902 | likely_pathogenic | 0.9015 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.685497951 | None | None | I |
| G/E | 0.9124 | likely_pathogenic | 0.9235 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/F | 0.9825 | likely_pathogenic | 0.9811 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.9639 | likely_pathogenic | 0.967 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/I | 0.9748 | likely_pathogenic | 0.9752 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/K | 0.9645 | likely_pathogenic | 0.9719 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9645 | likely_pathogenic | 0.9651 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/M | 0.982 | likely_pathogenic | 0.9808 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/N | 0.9252 | likely_pathogenic | 0.9323 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Q | 0.9245 | likely_pathogenic | 0.9383 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| G/R | 0.9082 | likely_pathogenic | 0.9273 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.762209712 | None | None | I |
| G/S | 0.4701 | ambiguous | 0.5447 | ambiguous | -0.802 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.667034564 | None | None | I |
| G/T | 0.8897 | likely_pathogenic | 0.9073 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/V | 0.9484 | likely_pathogenic | 0.9514 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.816815105 | None | None | I |
| G/W | 0.9665 | likely_pathogenic | 0.9582 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/Y | 0.9679 | likely_pathogenic | 0.9673 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.853 | 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.