Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31337 | 94234;94235;94236 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| N2AB | 29696 | 89311;89312;89313 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| N2A | 28769 | 86530;86531;86532 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| N2B | 22272 | 67039;67040;67041 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| Novex-1 | 22397 | 67414;67415;67416 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| Novex-2 | 22464 | 67615;67616;67617 | chr2:178547617;178547616;178547615 | chr2:179412344;179412343;179412342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1397790466  |
None | 1.0 | D | 0.864 | 0.515 | 0.662927126137 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1397790466 |
None | 1.0 | D | 0.864 | 0.515 | 0.662927126137 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | I | None | 0 | 0 | None | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs796068366 |
-0.342 | 1.0 | N | 0.853 | 0.467 | 0.658384854806 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 1.13135E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs796068366 |
-0.342 | 1.0 | N | 0.853 | 0.467 | 0.658384854806 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs796068366 |
-0.342 | 1.0 | N | 0.853 | 0.467 | 0.658384854806 | gnomAD-4.0.0 | 5.12383E-06 | None | None | None | None | I | None | 0 | 6.77851E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6562 | likely_pathogenic | 0.5969 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.521099647 | None | None | I |
| G/C | 0.825 | likely_pathogenic | 0.7768 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/D | 0.9094 | likely_pathogenic | 0.896 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/E | 0.9243 | likely_pathogenic | 0.9124 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.538443433 | None | None | I |
| G/F | 0.9599 | likely_pathogenic | 0.9475 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9653 | likely_pathogenic | 0.9579 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/I | 0.9395 | likely_pathogenic | 0.9278 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9714 | likely_pathogenic | 0.9656 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/L | 0.9425 | likely_pathogenic | 0.9285 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9701 | likely_pathogenic | 0.9594 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9333 | likely_pathogenic | 0.9135 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9714 | likely_pathogenic | 0.966 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.9514 | likely_pathogenic | 0.9463 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/R | 0.911 | likely_pathogenic | 0.8997 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.495500201 | None | None | I |
| G/S | 0.6018 | likely_pathogenic | 0.537 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/T | 0.8577 | likely_pathogenic | 0.8196 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/V | 0.9086 | likely_pathogenic | 0.8896 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.539964371 | None | None | I |
| G/W | 0.9215 | likely_pathogenic | 0.9035 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9562 | likely_pathogenic | 0.9385 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.814 | 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.