Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32019 | 96280;96281;96282 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| N2AB | 30378 | 91357;91358;91359 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| N2A | 29451 | 88576;88577;88578 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| N2B | 22954 | 69085;69086;69087 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| Novex-1 | 23079 | 69460;69461;69462 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| Novex-2 | 23146 | 69661;69662;69663 | chr2:178544089;178544088;178544087 | chr2:179408816;179408815;179408814 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs786205366  |
-0.277 | 0.619 | N | 0.376 | 0.068 | 0.266843984389 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs786205366 |
-0.277 | 0.619 | N | 0.376 | 0.068 | 0.266843984389 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs786205366 |
-0.277 | 0.619 | N | 0.376 | 0.068 | 0.266843984389 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3452 | ambiguous | 0.2584 | benign | -0.243 | Destabilizing | 0.998 | D | 0.764 | deleterious | N | 0.48538024 | None | None | N |
| D/C | 0.7872 | likely_pathogenic | 0.6883 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/E | 0.2012 | likely_benign | 0.1637 | benign | -0.235 | Destabilizing | 0.619 | D | 0.376 | neutral | N | 0.437991725 | None | None | N |
| D/F | 0.7607 | likely_pathogenic | 0.6585 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/G | 0.358 | ambiguous | 0.2639 | benign | -0.453 | Destabilizing | 0.996 | D | 0.759 | deleterious | N | 0.508747789 | None | None | N |
| D/H | 0.4877 | ambiguous | 0.3753 | ambiguous | 0.147 | Stabilizing | 1.0 | D | 0.809 | deleterious | N | 0.482921306 | None | None | N |
| D/I | 0.5296 | ambiguous | 0.4131 | ambiguous | 0.263 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/K | 0.6827 | likely_pathogenic | 0.56 | ambiguous | 0.263 | Stabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | N |
| D/L | 0.6507 | likely_pathogenic | 0.5398 | ambiguous | 0.263 | Stabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| D/M | 0.7807 | likely_pathogenic | 0.6913 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/N | 0.1771 | likely_benign | 0.1358 | benign | -0.08 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.490047649 | None | None | N |
| D/P | 0.872 | likely_pathogenic | 0.8155 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Q | 0.5939 | likely_pathogenic | 0.4864 | ambiguous | -0.025 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| D/R | 0.7017 | likely_pathogenic | 0.5991 | pathogenic | 0.496 | Stabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| D/S | 0.222 | likely_benign | 0.1686 | benign | -0.201 | Destabilizing | 0.994 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/T | 0.396 | ambiguous | 0.3084 | benign | -0.034 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| D/V | 0.3671 | ambiguous | 0.277 | benign | 0.117 | Stabilizing | 0.999 | D | 0.851 | deleterious | N | 0.509001278 | None | None | N |
| D/W | 0.9416 | likely_pathogenic | 0.9036 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/Y | 0.3849 | ambiguous | 0.2804 | benign | 0.157 | Stabilizing | 1.0 | D | 0.847 | deleterious | N | 0.498151952 | 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.