Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29058 | 87397;87398;87399 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| N2AB | 27417 | 82474;82475;82476 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| N2A | 26490 | 79693;79694;79695 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| N2B | 19993 | 60202;60203;60204 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| Novex-1 | 20118 | 60577;60578;60579 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| Novex-2 | 20185 | 60778;60779;60780 | chr2:178558182;178558181;178558180 | chr2:179422909;179422908;179422907 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs768069933  |
-0.299 | 1.0 | N | 0.548 | 0.383 | 0.325263233342 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| A/G | rs768069933 |
-0.299 | 1.0 | N | 0.548 | 0.383 | 0.325263233342 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs768069933 |
-0.299 | 1.0 | N | 0.548 | 0.383 | 0.325263233342 | gnomAD-4.0.0 | 4.83402E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.35688E-05 | 0 | 4.80323E-05 |
| A/S | None | None | 1.0 | N | 0.559 | 0.247 | 0.241078983079 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85806E-06 | 0 | 0 |
| A/V | rs768069933 |
-0.237 | 1.0 | N | 0.648 | 0.398 | 0.299086750705 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs768069933 |
-0.237 | 1.0 | N | 0.648 | 0.398 | 0.299086750705 | gnomAD-4.0.0 | 1.3686E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52156E-05 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5922 | likely_pathogenic | 0.6347 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| A/D | 0.7479 | likely_pathogenic | 0.7997 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.45664362 | None | None | I |
| A/E | 0.5185 | ambiguous | 0.6053 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| A/F | 0.6169 | likely_pathogenic | 0.663 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| A/G | 0.2225 | likely_benign | 0.2409 | benign | -0.584 | Destabilizing | 1.0 | D | 0.548 | neutral | N | 0.479774305 | None | None | I |
| A/H | 0.7164 | likely_pathogenic | 0.7433 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| A/I | 0.3802 | ambiguous | 0.4885 | ambiguous | -0.459 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| A/K | 0.5533 | ambiguous | 0.6419 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/L | 0.3637 | ambiguous | 0.4412 | ambiguous | -0.459 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| A/M | 0.3423 | ambiguous | 0.4269 | ambiguous | -0.426 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| A/N | 0.494 | ambiguous | 0.5672 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| A/P | 0.7008 | likely_pathogenic | 0.7941 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.510312318 | None | None | I |
| A/Q | 0.4833 | ambiguous | 0.5421 | ambiguous | -0.685 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| A/R | 0.5278 | ambiguous | 0.5946 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| A/S | 0.1238 | likely_benign | 0.1329 | benign | -0.676 | Destabilizing | 1.0 | D | 0.559 | neutral | N | 0.510485676 | None | None | I |
| A/T | 0.1613 | likely_benign | 0.2101 | benign | -0.73 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.515160777 | None | None | I |
| A/V | 0.1678 | likely_benign | 0.2272 | benign | -0.437 | Destabilizing | 1.0 | D | 0.648 | neutral | N | 0.494494716 | None | None | I |
| A/W | 0.9209 | likely_pathogenic | 0.9311 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| A/Y | 0.7407 | likely_pathogenic | 0.7637 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.821 | 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.