Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3748 | 11467;11468;11469 | chr2:178756234;178756233;178756232 | chr2:179620961;179620960;179620959 |
| 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 | 3577 | 10954;10955;10956 | chr2:178756234;178756233;178756232 | chr2:179620961;179620960;179620959 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs2086888986  |
None | None | None | None | 0.189 | None | gnomAD-4.0.0 | 6.86223E-07 | None | None | None | None | I | None | 2.99616E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0947 | likely_benign | None | None | -0.54 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.0811 | likely_benign | None | None | -0.469 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.2341 | likely_benign | None | None | 0.041 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.2253 | likely_benign | None | None | 0.021 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.1772 | likely_benign | None | None | -0.766 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.0964 | likely_benign | None | None | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.0996 | likely_benign | None | None | -1.246 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.1046 | likely_benign | None | None | -0.054 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.1741 | likely_benign | None | None | -0.615 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.1022 | likely_benign | None | None | -0.054 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.1748 | likely_benign | None | None | 0.072 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.0907 | likely_benign | None | None | -0.534 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.7136 | likely_pathogenic | None | None | -0.182 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.1717 | likely_benign | None | None | -0.677 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.0934 | likely_benign | None | None | -0.517 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.0728 | likely_benign | None | None | -0.571 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.1586 | likely_benign | None | None | -0.182 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.1978 | likely_benign | None | None | -0.754 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.1169 | likely_benign | None | None | -0.479 | Destabilizing | 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.