Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3526 | 10801;10802;10803 | chr2:178757644;178757643;178757642 | chr2:179622371;179622370;179622369 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3480 | 10663;10664;10665 | chr2:178757644;178757643;178757642 | chr2:179622371;179622370;179622369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs727503677  |
-2.578 | None | None | None | 0.603 | 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 |
| I/K | rs727503677 |
-2.578 | None | None | None | 0.603 | None | gnomAD-4.0.0 | 6.84224E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15947E-05 | 0 |
| I/T | rs727503677 |
None | None | None | None | 0.548 | None | gnomAD-4.0.0 | 2.7369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59801E-06 | 0 | 0 |
| I/V | None | None | None | None | None | 0.293 | None | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7849 | likely_pathogenic | None | None | -2.855 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9516 | likely_pathogenic | None | None | -2.158 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9841 | likely_pathogenic | None | None | -3.542 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9569 | likely_pathogenic | None | None | -3.33 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.381 | ambiguous | None | None | -1.793 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.9768 | likely_pathogenic | None | None | -3.391 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9224 | likely_pathogenic | None | None | -2.941 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.8913 | likely_pathogenic | None | None | -2.454 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1173 | likely_benign | None | None | -1.292 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.1668 | likely_benign | None | None | -1.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.8835 | likely_pathogenic | None | None | -2.784 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.985 | likely_pathogenic | None | None | -1.797 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.8979 | likely_pathogenic | None | None | -2.665 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8482 | likely_pathogenic | None | None | -2.059 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8592 | likely_pathogenic | None | None | -3.399 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.6812 | likely_pathogenic | None | None | -3.052 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.1968 | likely_benign | None | None | -1.797 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.928 | likely_pathogenic | None | None | -2.296 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8781 | likely_pathogenic | None | None | -2.049 | Highly 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.