Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3713 | 11362;11363;11364 | chr2:178756339;178756338;178756337 | chr2:179621066;179621065;179621064 |
| 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 | 3542 | 10849;10850;10851 | chr2:178756339;178756338;178756337 | chr2:179621066;179621065;179621064 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs2086928931  |
None | None | None | None | 0.136 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs2086928931 |
None | None | None | None | 0.136 | None | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2843 | likely_benign | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.3111 | likely_benign | None | None | 0.125 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.1252 | likely_benign | None | None | -0.575 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.3331 | likely_benign | None | None | -0.534 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.5315 | ambiguous | None | None | -0.675 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.3189 | likely_benign | None | None | -0.995 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.1224 | likely_benign | None | None | -0.927 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.241 | likely_benign | None | None | 0.001 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.2357 | likely_benign | None | None | -0.284 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.293 | likely_benign | None | None | 0.001 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.362 | ambiguous | None | None | 0.541 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.5456 | ambiguous | None | None | -0.205 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.3132 | likely_benign | None | None | -0.902 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.2625 | likely_benign | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1061 | likely_benign | None | None | -0.728 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.1749 | likely_benign | None | None | -0.517 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.2923 | likely_benign | None | None | -0.205 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.7546 | likely_pathogenic | None | None | -0.494 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.1645 | likely_benign | None | None | -0.286 | 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.