Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3682 | 11269;11270;11271 | chr2:178756432;178756431;178756430 | chr2:179621159;179621158;179621157 |
| 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 | 3511 | 10756;10757;10758 | chr2:178756432;178756431;178756430 | chr2:179621159;179621158;179621157 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs2086971533  |
None | None | None | None | 0.06 | None | gnomAD-4.0.0 | 6.84215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2355 | likely_benign | None | None | -1.662 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.7776 | likely_pathogenic | None | None | -1.176 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.5645 | likely_pathogenic | None | None | -1.748 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.3816 | ambiguous | None | None | -1.615 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.1735 | likely_benign | None | None | -1.03 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.3507 | ambiguous | None | None | -2.112 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.6368 | likely_pathogenic | None | None | -1.807 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0808 | likely_benign | None | None | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.454 | ambiguous | None | None | -1.367 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.1876 | likely_benign | None | None | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.1653 | likely_benign | None | None | -0.442 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.4446 | ambiguous | None | None | -1.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8518 | likely_pathogenic | None | None | -0.832 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.4109 | ambiguous | None | None | -1.409 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.3669 | ambiguous | None | None | -1.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.2851 | likely_benign | None | None | -2.066 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.2861 | likely_benign | None | None | -1.805 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.8473 | likely_pathogenic | None | None | -1.445 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.5723 | likely_pathogenic | None | None | -1.059 | 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.