Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3670 | 11233;11234;11235 | chr2:178756468;178756467;178756466 | chr2:179621195;179621194;179621193 |
| 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 | 3499 | 10720;10721;10722 | chr2:178756468;178756467;178756466 | chr2:179621195;179621194;179621193 |
| 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/P | rs794729589  |
None | None | None | None | 0.09 | None | gnomAD-4.0.0 | 7.52639E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89406E-06 | 0 | 0 |
| T/S | rs794729589 |
-0.019 | None | None | None | 0.125 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/S | rs794729589 |
-0.019 | None | None | None | 0.125 | None | gnomAD-4.0.0 | 6.84217E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65651E-05 |
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 | 0.0856 | likely_benign | None | None | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.4367 | ambiguous | None | None | -0.405 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.3866 | ambiguous | None | None | 0.286 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.2842 | likely_benign | None | None | 0.218 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.2609 | likely_benign | None | None | -0.796 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.3072 | likely_benign | None | None | -0.374 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.2427 | likely_benign | None | None | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.1789 | likely_benign | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.1786 | likely_benign | None | None | -0.288 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.1344 | likely_benign | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.1048 | likely_benign | None | None | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.1381 | likely_benign | None | None | -0.214 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.1803 | likely_benign | None | None | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.2235 | likely_benign | None | None | -0.374 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.1337 | likely_benign | None | None | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1222 | likely_benign | None | None | -0.403 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.1729 | likely_benign | None | None | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.5843 | likely_pathogenic | None | None | -0.846 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.2975 | likely_benign | None | None | -0.529 | 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.