Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3691 | 11296;11297;11298 | chr2:178756405;178756404;178756403 | chr2:179621132;179621131;179621130 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3520 | 10783;10784;10785 | chr2:178756405;178756404;178756403 | chr2:179621132;179621131;179621130 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1331719489  |
-0.567 | None | None | None | 0.125 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1331719489 |
-0.567 | None | None | None | 0.125 | None | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 2.2877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3063 | likely_benign | None | None | -1.615 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.7617 | likely_pathogenic | None | None | -0.949 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.6443 | likely_pathogenic | None | None | -1.67 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.5648 | likely_pathogenic | None | None | -1.634 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.2021 | likely_benign | None | None | -1.18 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.4081 | ambiguous | None | None | -1.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.7741 | likely_pathogenic | None | None | -1.599 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0849 | likely_benign | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.5885 | likely_pathogenic | None | None | -1.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.2961 | likely_benign | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.1788 | likely_benign | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.5305 | ambiguous | None | None | -1.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8698 | likely_pathogenic | None | None | -0.976 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.6156 | likely_pathogenic | None | None | -1.365 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.5335 | ambiguous | None | None | -0.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.4236 | ambiguous | None | None | -1.736 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.2976 | likely_benign | None | None | -1.589 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.8686 | likely_pathogenic | None | None | -1.458 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.6505 | likely_pathogenic | None | None | -1.16 | Destabilizing | None | None | None | None | 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.