Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3686 | 11281;11282;11283 | chr2:178756420;178756419;178756418 | chr2:179621147;179621146;179621145 |
| 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 | 3515 | 10768;10769;10770 | chr2:178756420;178756419;178756418 | chr2:179621147;179621146;179621145 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs548665458  |
0.137 | None | None | None | 0.085 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/Y | rs548665458 |
0.137 | None | None | None | 0.085 | None | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.133 | likely_benign | None | None | -0.404 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/C | 0.4154 | ambiguous | None | None | -0.058 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.1338 | likely_benign | None | None | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/F | 0.458 | ambiguous | None | None | -0.217 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.1134 | likely_benign | None | None | -0.611 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/H | 0.1771 | likely_benign | None | None | -0.08 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/I | 0.2559 | likely_benign | None | None | 0.101 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.1852 | likely_benign | None | None | 0.248 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.2951 | likely_benign | None | None | 0.101 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.5047 | ambiguous | None | None | 0.253 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.0864 | likely_benign | None | None | -0.128 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/P | 0.3984 | ambiguous | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.2157 | likely_benign | None | None | -0.062 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.2004 | likely_benign | None | None | 0.415 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.0967 | likely_benign | None | None | -0.226 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.172 | likely_benign | None | None | -0.053 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.1755 | likely_benign | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/W | 0.7664 | likely_pathogenic | None | None | -0.034 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.1651 | likely_benign | None | None | 0.028 | Stabilizing | None | None | None | None | None | None | None | None | I |
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.