Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3693 | 11302;11303;11304 | chr2:178756399;178756398;178756397 | chr2:179621126;179621125;179621124 |
| 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 | 3522 | 10789;10790;10791 | chr2:178756399;178756398;178756397 | chr2:179621126;179621125;179621124 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1418383174  |
-1.722 | None | None | None | 0.802 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/C | rs1418383174 |
-1.722 | None | None | None | 0.802 | None | gnomAD-4.0.0 | 4.10529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9862 | likely_pathogenic | None | None | -2.98 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/C | 0.9898 | likely_pathogenic | None | None | -1.68 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/D | 0.9987 | likely_pathogenic | None | None | -2.996 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/E | 0.9974 | likely_pathogenic | None | None | -2.874 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/F | 0.5413 | ambiguous | None | None | -1.769 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/G | 0.9685 | likely_pathogenic | None | None | -3.227 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/H | 0.9943 | likely_pathogenic | None | None | -2.089 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/I | 0.9231 | likely_pathogenic | None | None | -2.045 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/K | 0.9986 | likely_pathogenic | None | None | -2.255 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/L | 0.8389 | likely_pathogenic | None | None | -2.045 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/M | 0.9595 | likely_pathogenic | None | None | -1.573 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/N | 0.9976 | likely_pathogenic | None | None | -2.927 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/P | 0.9983 | likely_pathogenic | None | None | -2.385 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Q | 0.9983 | likely_pathogenic | None | None | -2.757 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/R | 0.9971 | likely_pathogenic | None | None | -2.0 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/S | 0.9847 | likely_pathogenic | None | None | -3.154 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/T | 0.9872 | likely_pathogenic | None | None | -2.963 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/V | 0.9222 | likely_pathogenic | None | None | -2.385 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Y | 0.87 | likely_pathogenic | None | None | -1.593 | 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.