Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3498 | 10717;10718;10719 | chr2:178757728;178757727;178757726 | chr2:179622455;179622454;179622453 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3452 | 10579;10580;10581 | chr2:178757728;178757727;178757726 | chr2:179622455;179622454;179622453 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | None | None | None | 0.763 | None | gnomAD-4.0.0 | 6.84182E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 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 | 0.9947 | likely_pathogenic | None | None | -2.701 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | None | None | -1.432 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/D | 0.9991 | likely_pathogenic | None | None | -3.409 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | None | None | -3.288 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/F | 0.6036 | likely_pathogenic | None | None | -1.755 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/G | 0.9771 | likely_pathogenic | None | None | -2.939 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/H | 0.9966 | likely_pathogenic | None | None | -2.241 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/I | 0.9669 | likely_pathogenic | None | None | -1.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | None | None | -2.43 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/L | 0.9279 | likely_pathogenic | None | None | -1.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/M | 0.9881 | likely_pathogenic | None | None | -1.286 | Destabilizing | None | None | None | None | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | None | None | -3.209 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | None | None | -2.126 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | None | None | -2.975 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | None | None | -2.392 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/S | 0.9946 | likely_pathogenic | None | None | -3.246 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/T | 0.9948 | likely_pathogenic | None | None | -3.046 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/V | 0.9731 | likely_pathogenic | None | None | -2.126 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Y | 0.8961 | likely_pathogenic | None | None | -1.62 | 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.