Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32326 | 97201;97202;97203 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| N2AB | 30685 | 92278;92279;92280 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| N2A | 29758 | 89497;89498;89499 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| N2B | 23261 | 70006;70007;70008 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| Novex-1 | 23386 | 70381;70382;70383 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| Novex-2 | 23453 | 70582;70583;70584 | chr2:178542878;178542877;178542876 | chr2:179407605;179407604;179407603 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs752927644  |
-1.249 | 0.999 | D | 0.649 | 0.597 | 0.643739242672 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02459E-04 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs752927644 |
-1.249 | 0.999 | D | 0.649 | 0.597 | 0.643739242672 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs752927644 |
-1.249 | 0.999 | D | 0.649 | 0.597 | 0.643739242672 | gnomAD-4.0.0 | 2.47885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45653E-05 | None | 0 | 0 | 1.6953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.801 | likely_pathogenic | 0.7491 | pathogenic | -2.229 | Highly Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| L/C | 0.8449 | likely_pathogenic | 0.8264 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| L/D | 0.9972 | likely_pathogenic | 0.996 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/E | 0.988 | likely_pathogenic | 0.9846 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/F | 0.3498 | ambiguous | 0.3201 | benign | -1.364 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| L/G | 0.9697 | likely_pathogenic | 0.96 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/H | 0.968 | likely_pathogenic | 0.9563 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| L/I | 0.1064 | likely_benign | 0.1049 | benign | -0.818 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| L/K | 0.9801 | likely_pathogenic | 0.9761 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/M | 0.1753 | likely_benign | 0.1724 | benign | -0.862 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.577960476 | None | None | N |
| L/N | 0.9867 | likely_pathogenic | 0.9832 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/P | 0.9895 | likely_pathogenic | 0.9813 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.592003357 | None | None | N |
| L/Q | 0.9628 | likely_pathogenic | 0.9537 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.592003357 | None | None | N |
| L/R | 0.9667 | likely_pathogenic | 0.9557 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.592003357 | None | None | N |
| L/S | 0.9797 | likely_pathogenic | 0.9689 | pathogenic | -2.779 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/T | 0.8892 | likely_pathogenic | 0.8425 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/V | 0.1526 | likely_benign | 0.1443 | benign | -1.272 | Destabilizing | 0.999 | D | 0.649 | neutral | D | 0.575728473 | None | None | N |
| L/W | 0.7986 | likely_pathogenic | 0.728 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| L/Y | 0.8563 | likely_pathogenic | 0.8252 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.798 | 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.