Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3703 | 11332;11333;11334 | chr2:178756369;178756368;178756367 | chr2:179621096;179621095;179621094 |
| 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 | 3532 | 10819;10820;10821 | chr2:178756369;178756368;178756367 | chr2:179621096;179621095;179621094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs773438970  |
None | None | None | None | 0.117 | None | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
| S/Y | rs773438970 |
-0.519 | None | None | None | 0.114 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/Y | rs773438970 |
-0.519 | None | None | None | 0.114 | None | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1326 | likely_benign | None | None | -0.143 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1409 | likely_benign | None | None | -0.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.2912 | likely_benign | None | None | 0.208 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.5193 | ambiguous | None | None | 0.118 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.3324 | likely_benign | None | None | -0.715 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.0878 | likely_benign | None | None | -0.256 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.4162 | ambiguous | None | None | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.3144 | likely_benign | None | None | 0.02 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.6291 | likely_pathogenic | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1629 | likely_benign | None | None | 0.02 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.2873 | likely_benign | None | None | 0.072 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1113 | likely_benign | None | None | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.5951 | likely_pathogenic | None | None | -0.005 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.589 | likely_pathogenic | None | None | -0.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.539 | ambiguous | None | None | -0.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.0914 | likely_benign | None | None | -0.196 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.3109 | likely_benign | None | None | -0.005 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.4475 | ambiguous | None | None | -0.782 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.2555 | likely_benign | None | None | -0.476 | 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.