Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3741 | 11446;11447;11448 | chr2:178756255;178756254;178756253 | chr2:179620982;179620981;179620980 |
| 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 | 3570 | 10933;10934;10935 | chr2:178756255;178756254;178756253 | chr2:179620982;179620981;179620980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs773277489  |
-0.432 | None | None | None | 0.117 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/K | rs773277489 |
-0.432 | None | None | None | 0.117 | None | gnomAD-4.0.0 | 2.05456E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80068E-06 | 0 | 1.65772E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.168 | likely_benign | None | None | -0.535 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/C | 0.1357 | likely_benign | None | None | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/D | 0.3383 | likely_benign | None | None | 0.005 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/E | 0.1394 | likely_benign | None | None | 0.122 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/F | 0.3628 | ambiguous | None | None | -0.4 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/G | 0.1365 | likely_benign | None | None | -0.829 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/H | 0.1052 | likely_benign | None | None | -1.151 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/I | 0.1063 | likely_benign | None | None | 0.244 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/K | 0.0696 | likely_benign | None | None | -0.614 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/L | 0.1471 | likely_benign | None | None | 0.244 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/M | 0.1085 | likely_benign | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/N | 0.2722 | likely_benign | None | None | -0.192 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/P | 0.7652 | likely_pathogenic | None | None | 0.006 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/Q | 0.0751 | likely_benign | None | None | -0.31 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/S | 0.2013 | likely_benign | None | None | -0.843 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/T | 0.1002 | likely_benign | None | None | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/V | 0.1602 | likely_benign | None | None | 0.006 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/W | 0.1635 | likely_benign | None | None | -0.145 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/Y | 0.241 | likely_benign | None | None | 0.164 | 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.