Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3553 | 10882;10883;10884 | chr2:178757563;178757562;178757561 | chr2:179622290;179622289;179622288 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3507 | 10744;10745;10746 | chr2:178757563;178757562;178757561 | chr2:179622290;179622289;179622288 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs770418018  |
-0.28 | None | None | None | 0.081 | None | gnomAD-2.1.1 | 7.56E-06 | None | None | None | None | N | None | 4.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.2E-06 | 0 |
| T/I | rs770418018 |
-0.28 | None | None | None | 0.081 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs770418018 |
-0.28 | None | None | None | 0.081 | None | gnomAD-4.0.0 | 1.89115E-06 | None | None | None | None | N | None | 1.348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0879 | likely_benign | None | None | -1.022 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/C | 0.546 | ambiguous | None | None | -0.633 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.3993 | ambiguous | None | None | 0.025 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.313 | likely_benign | None | None | 0.02 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.2196 | likely_benign | None | None | -1.234 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3722 | ambiguous | None | None | -1.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.2683 | likely_benign | None | None | -1.534 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1287 | likely_benign | None | None | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/K | 0.2326 | likely_benign | None | None | -0.594 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1005 | likely_benign | None | None | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.1007 | likely_benign | None | None | -0.165 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1305 | likely_benign | None | None | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.2181 | likely_benign | None | None | -0.644 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Q | 0.2397 | likely_benign | None | None | -0.724 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.1917 | likely_benign | None | None | -0.389 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1224 | likely_benign | None | None | -0.891 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/V | 0.1226 | likely_benign | None | None | -0.644 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.6646 | likely_pathogenic | None | None | -1.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.2923 | likely_benign | None | None | -0.866 | 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.