Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3544 | 10855;10856;10857 | chr2:178757590;178757589;178757588 | chr2:179622317;179622316;179622315 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3498 | 10717;10718;10719 | chr2:178757590;178757589;178757588 | chr2:179622317;179622316;179622315 |
| 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/G | rs1364238345  |
None | None | None | None | 0.09 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs1364238345 |
None | None | None | None | 0.09 | None | gnomAD-4.0.0 | 6.57091E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0756 | likely_benign | None | None | -0.186 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.1835 | likely_benign | None | None | -0.424 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.3167 | likely_benign | None | None | -0.163 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.3859 | ambiguous | None | None | -0.275 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.1937 | likely_benign | None | None | -0.944 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.1115 | likely_benign | None | None | -0.214 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.3134 | likely_benign | None | None | -0.528 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.1334 | likely_benign | None | None | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.5293 | ambiguous | None | None | -0.463 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.1009 | likely_benign | None | None | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.2203 | likely_benign | None | None | -0.18 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.1407 | likely_benign | None | None | -0.229 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.1909 | likely_benign | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.4293 | ambiguous | None | None | -0.467 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.4025 | ambiguous | None | None | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.0886 | likely_benign | None | None | -0.338 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.1687 | likely_benign | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.3853 | ambiguous | None | None | -1.033 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.1939 | likely_benign | None | None | -0.723 | 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.