Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3666 | 11221;11222;11223 | chr2:178756480;178756479;178756478 | chr2:179621207;179621206;179621205 |
| 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 | 3495 | 10708;10709;10710 | chr2:178756480;178756479;178756478 | chr2:179621207;179621206;179621205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs2087001546  |
None | None | None | None | 0.264 | 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 |
| L/P | rs2087001546 |
None | None | None | None | 0.264 | None | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8084 | likely_pathogenic | None | None | -2.288 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.8783 | likely_pathogenic | None | None | -1.579 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.99 | likely_pathogenic | None | None | -2.479 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9418 | likely_pathogenic | None | None | -2.306 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.4829 | ambiguous | None | None | -1.366 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9388 | likely_pathogenic | None | None | -2.787 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.8926 | likely_pathogenic | None | None | -2.213 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.1932 | likely_benign | None | None | -0.876 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.911 | likely_pathogenic | None | None | -1.577 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.245 | likely_benign | None | None | -0.842 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9493 | likely_pathogenic | None | None | -1.779 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.7546 | likely_pathogenic | None | None | -1.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.7869 | likely_pathogenic | None | None | -1.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.8643 | likely_pathogenic | None | None | -1.249 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9027 | likely_pathogenic | None | None | -2.466 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.814 | likely_pathogenic | None | None | -2.158 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2743 | likely_benign | None | None | -1.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.8554 | likely_pathogenic | None | None | -1.721 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9333 | likely_pathogenic | None | None | -1.426 | 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.