Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3532 | 10819;10820;10821 | chr2:178757626;178757625;178757624 | chr2:179622353;179622352;179622351 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3486 | 10681;10682;10683 | chr2:178757626;178757625;178757624 | chr2:179622353;179622352;179622351 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs368855843  |
0.168 | None | None | None | 0.232 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/D | rs368855843 |
0.168 | None | None | None | 0.232 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/D | rs368855843 |
0.168 | None | None | None | 0.232 | None | gnomAD-4.0.0 | 1.9214E-05 | None | None | None | None | I | None | 2.67001E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45843E-05 | 0 | 0 |
| E/K | rs2087705976 |
None | None | None | None | 0.278 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2475 | likely_benign | None | None | -0.746 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.9259 | likely_pathogenic | None | None | -0.421 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.247 | likely_benign | None | None | -0.624 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.8917 | likely_pathogenic | None | None | -0.354 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.2726 | likely_benign | None | None | -1.004 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.571 | likely_pathogenic | None | None | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.6083 | likely_pathogenic | None | None | -0.072 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.1741 | likely_benign | None | None | -0.27 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.6647 | likely_pathogenic | None | None | -0.072 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.6986 | likely_pathogenic | None | None | 0.092 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.4538 | ambiguous | None | None | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.7153 | likely_pathogenic | None | None | -0.277 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.177 | likely_benign | None | None | -0.593 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.3064 | likely_benign | None | None | 0.153 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.3029 | likely_benign | None | None | -0.887 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.4084 | ambiguous | None | None | -0.678 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.4265 | ambiguous | None | None | -0.277 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9485 | likely_pathogenic | None | None | -0.108 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.8123 | likely_pathogenic | None | None | -0.114 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.