Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3518 | 10777;10778;10779 | chr2:178757668;178757667;178757666 | chr2:179622395;179622394;179622393 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3472 | 10639;10640;10641 | chr2:178757668;178757667;178757666 | chr2:179622395;179622394;179622393 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1277243327  |
-0.01 | None | None | None | 0.165 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/C | rs1277243327 |
-0.01 | None | None | None | 0.165 | None | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| S/T | rs745350155 |
0.162 | None | None | None | 0.086 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/T | rs745350155 |
0.162 | None | None | None | 0.086 | None | gnomAD-4.0.0 | 3.18232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71615E-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 | 0.0949 | likely_benign | None | None | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.2525 | likely_benign | None | None | -0.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.3248 | likely_benign | None | None | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.4166 | ambiguous | None | None | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.3779 | ambiguous | None | None | -0.94 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1133 | likely_benign | None | None | -0.205 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.3938 | ambiguous | None | None | -0.559 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.2519 | likely_benign | None | None | -0.23 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.5957 | likely_pathogenic | None | None | -0.374 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.197 | likely_benign | None | None | -0.23 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.2892 | likely_benign | None | None | -0.112 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1236 | likely_benign | None | None | -0.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.2461 | likely_benign | None | None | -0.189 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.4729 | ambiguous | None | None | -0.368 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.5506 | ambiguous | None | None | -0.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.0984 | likely_benign | None | None | -0.239 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.2635 | likely_benign | None | None | -0.189 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.5787 | likely_pathogenic | None | None | -1.022 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.3155 | likely_benign | None | None | -0.709 | 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.