Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3554 | 10885;10886;10887 | chr2:178757560;178757559;178757558 | chr2:179622287;179622286;179622285 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3508 | 10747;10748;10749 | chr2:178757560;178757559;178757558 | chr2:179622287;179622286;179622285 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1467211206  |
-1.659 | None | None | None | 0.313 | None | gnomAD-2.1.1 | 4.3E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.42E-06 | 0 |
| L/F | rs1467211206 |
-1.659 | None | None | None | 0.313 | None | gnomAD-4.0.0 | 1.39574E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.82633E-06 | 0 | 0 |
| L/H | None | None | None | None | None | 0.509 | None | gnomAD-4.0.0 | 2.0977E-06 | None | None | None | None | N | None | 6.13083E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.69566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9356 | likely_pathogenic | None | None | -2.649 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.962 | likely_pathogenic | None | None | -2.053 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | None | None | -3.251 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9957 | likely_pathogenic | None | None | -2.95 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.8053 | likely_pathogenic | None | None | -1.612 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9924 | likely_pathogenic | None | None | -3.267 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.993 | likely_pathogenic | None | None | -2.926 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.2368 | likely_benign | None | None | -0.818 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9937 | likely_pathogenic | None | None | -2.01 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.4626 | ambiguous | None | None | -0.959 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9965 | likely_pathogenic | None | None | -2.622 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9968 | likely_pathogenic | None | None | -1.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.9841 | likely_pathogenic | None | None | -2.33 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9841 | likely_pathogenic | None | None | -1.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9923 | likely_pathogenic | None | None | -3.284 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.9689 | likely_pathogenic | None | None | -2.813 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2584 | likely_benign | None | None | -1.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.9881 | likely_pathogenic | None | None | -2.064 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9893 | likely_pathogenic | None | None | -1.77 | 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.