Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9246 | 27961;27962;27963 | chr2:178712094;178712093;178712092 | chr2:179576821;179576820;179576819 |
| N2AB | 8929 | 27010;27011;27012 | chr2:178712094;178712093;178712092 | chr2:179576821;179576820;179576819 |
| N2A | 8002 | 24229;24230;24231 | chr2:178712094;178712093;178712092 | chr2:179576821;179576820;179576819 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | rs1404441295  |
None | 0.998 | N | 0.638 | 0.445 | 0.755339858868 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/I | rs1404441295 |
None | 0.998 | N | 0.638 | 0.445 | 0.755339858868 | gnomAD-4.0.0 | 3.84354E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17892E-06 | 0 | 0 |
| R/K | rs1404441295 |
0.255 | 0.998 | N | 0.505 | 0.211 | 0.348983352498 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| R/K | rs1404441295 |
0.255 | 0.998 | N | 0.505 | 0.211 | 0.348983352498 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.45E-05 | 0 | 0 | 0 | 0 |
| R/K | rs1404441295 |
0.255 | 0.998 | N | 0.505 | 0.211 | 0.348983352498 | gnomAD-4.0.0 | 2.56236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56996E-05 | 0 | 2.39297E-06 | 0 | 0 |
| R/S | None | None | 0.994 | N | 0.508 | 0.328 | 0.322510055762 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85827E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7472 | likely_pathogenic | 0.8679 | pathogenic | 0.216 | Stabilizing | 0.992 | D | 0.547 | neutral | None | None | None | None | N |
| R/C | 0.3758 | ambiguous | 0.6066 | pathogenic | -0.032 | Destabilizing | 0.46 | N | 0.465 | neutral | None | None | None | None | N |
| R/D | 0.9098 | likely_pathogenic | 0.9576 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| R/E | 0.6721 | likely_pathogenic | 0.8031 | pathogenic | -0.156 | Destabilizing | 0.999 | D | 0.499 | neutral | None | None | None | None | N |
| R/F | 0.6609 | likely_pathogenic | 0.8057 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| R/G | 0.6041 | likely_pathogenic | 0.7877 | pathogenic | 0.004 | Stabilizing | 0.994 | D | 0.492 | neutral | D | 0.52470942 | None | None | N |
| R/H | 0.1641 | likely_benign | 0.2871 | benign | -0.671 | Destabilizing | 1.0 | D | 0.517 | neutral | None | None | None | None | N |
| R/I | 0.4618 | ambiguous | 0.6274 | pathogenic | 0.742 | Stabilizing | 0.998 | D | 0.638 | neutral | N | 0.508451888 | None | None | N |
| R/K | 0.1904 | likely_benign | 0.3015 | benign | 0.087 | Stabilizing | 0.998 | D | 0.505 | neutral | N | 0.502619207 | None | None | N |
| R/L | 0.3958 | ambiguous | 0.5809 | pathogenic | 0.742 | Stabilizing | 0.992 | D | 0.536 | neutral | None | None | None | None | N |
| R/M | 0.5126 | ambiguous | 0.7057 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.539 | neutral | None | None | None | None | N |
| R/N | 0.8454 | likely_pathogenic | 0.9243 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.513 | neutral | None | None | None | None | N |
| R/P | 0.7862 | likely_pathogenic | 0.891 | pathogenic | 0.588 | Stabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| R/Q | 0.1858 | likely_benign | 0.3221 | benign | 0.164 | Stabilizing | 1.0 | D | 0.539 | neutral | None | None | None | None | N |
| R/S | 0.7859 | likely_pathogenic | 0.8953 | pathogenic | -0.008 | Destabilizing | 0.994 | D | 0.508 | neutral | N | 0.496039951 | None | None | N |
| R/T | 0.6396 | likely_pathogenic | 0.7968 | pathogenic | 0.217 | Stabilizing | 0.994 | D | 0.504 | neutral | N | 0.507065021 | None | None | N |
| R/V | 0.5948 | likely_pathogenic | 0.7632 | pathogenic | 0.588 | Stabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| R/W | 0.2159 | likely_benign | 0.3701 | ambiguous | -0.07 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| R/Y | 0.4763 | ambiguous | 0.6652 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.593 | neutral | 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.