Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17630 | 53113;53114;53115 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| N2AB | 15989 | 48190;48191;48192 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| N2A | 15062 | 45409;45410;45411 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| N2B | 8565 | 25918;25919;25920 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| Novex-1 | 8690 | 26293;26294;26295 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| Novex-2 | 8757 | 26494;26495;26496 | chr2:178607899;178607898;178607897 | chr2:179472626;179472625;179472624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1384115571  |
-0.647 | 0.977 | N | 0.441 | 0.419 | 0.38242337071 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs1384115571 |
-0.647 | 0.977 | N | 0.441 | 0.419 | 0.38242337071 | gnomAD-4.0.0 | 4.77814E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.05583E-05 |
| T/I | None | None | 0.235 | N | 0.299 | 0.363 | 0.421184727016 | gnomAD-4.0.0 | 6.84481E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65782E-05 |
| T/N | rs774179004 |
-0.56 | 0.999 | N | 0.606 | 0.427 | 0.453024522228 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/N | rs774179004 |
-0.56 | 0.999 | N | 0.606 | 0.427 | 0.453024522228 | gnomAD-4.0.0 | 2.73793E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1011 | likely_benign | 0.0926 | benign | -0.611 | Destabilizing | 0.977 | D | 0.441 | neutral | N | 0.48331511 | None | None | N |
| T/C | 0.4112 | ambiguous | 0.3777 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/D | 0.5731 | likely_pathogenic | 0.5234 | ambiguous | 0.116 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/E | 0.349 | ambiguous | 0.301 | benign | 0.114 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/F | 0.3464 | ambiguous | 0.3074 | benign | -0.695 | Destabilizing | 0.995 | D | 0.761 | deleterious | None | None | None | None | N |
| T/G | 0.4274 | ambiguous | 0.3835 | ambiguous | -0.855 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| T/H | 0.3005 | likely_benign | 0.2706 | benign | -1.071 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/I | 0.1385 | likely_benign | 0.1357 | benign | -0.057 | Destabilizing | 0.235 | N | 0.299 | neutral | N | 0.486428982 | None | None | N |
| T/K | 0.1891 | likely_benign | 0.1653 | benign | -0.612 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/L | 0.1259 | likely_benign | 0.1189 | benign | -0.057 | Destabilizing | 0.966 | D | 0.506 | neutral | None | None | None | None | N |
| T/M | 0.1105 | likely_benign | 0.1023 | benign | -0.015 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/N | 0.2094 | likely_benign | 0.1967 | benign | -0.505 | Destabilizing | 0.999 | D | 0.606 | neutral | N | 0.482808131 | None | None | N |
| T/P | 0.2242 | likely_benign | 0.1959 | benign | -0.209 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | N | 0.482189474 | None | None | N |
| T/Q | 0.2509 | likely_benign | 0.22 | benign | -0.606 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| T/R | 0.1546 | likely_benign | 0.1388 | benign | -0.418 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/S | 0.1746 | likely_benign | 0.1539 | benign | -0.778 | Destabilizing | 0.989 | D | 0.406 | neutral | N | 0.491201922 | None | None | N |
| T/V | 0.1137 | likely_benign | 0.1069 | benign | -0.209 | Destabilizing | 0.921 | D | 0.45 | neutral | None | None | None | None | N |
| T/W | 0.6784 | likely_pathogenic | 0.6391 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/Y | 0.3954 | ambiguous | 0.3711 | ambiguous | -0.43 | Destabilizing | 0.999 | D | 0.775 | 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.