Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3663 | 11212;11213;11214 | chr2:178756489;178756488;178756487 | chr2:179621216;179621215;179621214 |
| 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 | 3492 | 10699;10700;10701 | chr2:178756489;178756488;178756487 | chr2:179621216;179621215;179621214 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs777956268  |
-0.712 | None | None | None | 0.087 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/L | rs777956268 |
-0.712 | None | None | None | 0.087 | None | gnomAD-4.0.0 | 1.59129E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85814E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.1945 | likely_benign | None | None | -1.365 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/C | 0.183 | likely_benign | None | None | -0.614 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/D | 0.3667 | ambiguous | None | None | 0.185 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/E | 0.3721 | ambiguous | None | None | 0.193 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/G | 0.4142 | ambiguous | None | None | -1.601 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/H | 0.1997 | likely_benign | None | None | 0.014 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/I | 0.0635 | likely_benign | None | None | -0.722 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/K | 0.4004 | ambiguous | None | None | -0.547 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/L | 0.1565 | likely_benign | None | None | -0.722 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/M | 0.1726 | likely_benign | None | None | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/N | 0.2598 | likely_benign | None | None | -0.576 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/P | 0.5923 | likely_pathogenic | None | None | -0.921 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Q | 0.2524 | likely_benign | None | None | -0.637 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/R | 0.2515 | likely_benign | None | None | 0.029 | Stabilizing | None | None | None | None | None | None | None | None | I |
| F/S | 0.1441 | likely_benign | None | None | -1.26 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/T | 0.1743 | likely_benign | None | None | -1.159 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/V | 0.0769 | likely_benign | None | None | -0.921 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/W | 0.2373 | likely_benign | None | None | -0.3 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Y | 0.1222 | likely_benign | None | None | -0.396 | Destabilizing | None | None | None | None | 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.