Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3534 | 10825;10826;10827 | chr2:178757620;178757619;178757618 | chr2:179622347;179622346;179622345 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3488 | 10687;10688;10689 | chr2:178757620;178757619;178757618 | chr2:179622347;179622346;179622345 |
| 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/S | rs1205126810  |
None | None | None | None | 0.201 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1205126810 |
None | None | None | None | 0.201 | None | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7728 | likely_pathogenic | None | None | -0.93 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.5796 | likely_pathogenic | None | None | -1.171 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.3908 | ambiguous | None | None | -1.168 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.7371 | likely_pathogenic | None | None | -1.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.2208 | likely_benign | None | None | -1.309 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.7667 | likely_pathogenic | None | None | -1.471 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.5983 | likely_pathogenic | None | None | -0.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.6794 | likely_pathogenic | None | None | -1.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.4994 | ambiguous | None | None | -0.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.5064 | ambiguous | None | None | -0.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.5706 | likely_pathogenic | None | None | -0.99 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.8487 | likely_pathogenic | None | None | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.5059 | ambiguous | None | None | -1.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.5393 | ambiguous | None | None | -0.909 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1129 | likely_benign | None | None | -1.412 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.1514 | likely_benign | None | None | -1.304 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.3271 | likely_benign | None | None | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.9483 | likely_pathogenic | None | None | -1.458 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.8322 | likely_pathogenic | None | None | -1.025 | 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.