Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3552 | 10879;10880;10881 | chr2:178757566;178757565;178757564 | chr2:179622293;179622292;179622291 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3506 | 10741;10742;10743 | chr2:178757566;178757565;178757564 | chr2:179622293;179622292;179622291 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs774004409  |
-0.464 | None | None | None | 0.374 | None | gnomAD-2.1.1 | 4.12E-05 | None | None | None | None | N | None | 4.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.16E-05 | 0 |
| A/P | rs774004409 |
-0.464 | None | None | None | 0.374 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02902E-04 | 0 | 0 |
| A/P | rs774004409 |
-0.464 | None | None | None | 0.374 | None | gnomAD-4.0.0 | 8.55714E-05 | None | None | None | None | N | None | 1.346E-05 | 1.71845E-05 | None | 0 | 0 | None | 0 | 0 | 1.12428E-04 | 0 | 4.89349E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.921 | likely_pathogenic | None | None | -1.378 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9595 | likely_pathogenic | None | None | -1.015 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9646 | likely_pathogenic | None | None | -0.972 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.9757 | likely_pathogenic | None | None | -1.038 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.2864 | likely_benign | None | None | -1.324 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.9916 | likely_pathogenic | None | None | -1.45 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.9414 | likely_pathogenic | None | None | -0.22 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9923 | likely_pathogenic | None | None | -0.995 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.9012 | likely_pathogenic | None | None | -0.22 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.9093 | likely_pathogenic | None | None | -0.442 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9609 | likely_pathogenic | None | None | -0.921 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9914 | likely_pathogenic | None | None | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9708 | likely_pathogenic | None | None | -0.967 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9804 | likely_pathogenic | None | None | -0.865 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.2592 | likely_benign | None | None | -1.452 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.4284 | ambiguous | None | None | -1.282 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.7098 | likely_pathogenic | None | None | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.9985 | likely_pathogenic | None | None | -1.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9914 | likely_pathogenic | None | None | -0.933 | 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.