Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3708 | 11347;11348;11349 | chr2:178756354;178756353;178756352 | chr2:179621081;179621080;179621079 |
| 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 | 3537 | 10834;10835;10836 | chr2:178756354;178756353;178756352 | chr2:179621081;179621080;179621079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs578181523  |
None | None | None | None | 0.077 | None | gnomAD-4.0.0 | 4.10517E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 8.28253E-05 |
| Q/L | rs769115076 |
0.372 | None | None | None | 0.125 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| Q/L | rs769115076 |
0.372 | None | None | None | 0.125 | None | gnomAD-4.0.0 | 3.42098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49724E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2703 | likely_benign | None | None | -0.853 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.5737 | likely_pathogenic | None | None | -0.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.5778 | likely_pathogenic | None | None | -0.544 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1117 | likely_benign | None | None | -0.408 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.6157 | likely_pathogenic | None | None | -0.528 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.3446 | ambiguous | None | None | -1.237 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.2838 | likely_benign | None | None | -0.989 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.2732 | likely_benign | None | None | 0.142 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.0975 | likely_benign | None | None | -0.234 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.1309 | likely_benign | None | None | 0.142 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.3447 | ambiguous | None | None | 0.565 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.4118 | ambiguous | None | None | -0.895 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.2228 | likely_benign | None | None | -0.159 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.1147 | likely_benign | None | None | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.3704 | ambiguous | None | None | -1.056 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2356 | likely_benign | None | None | -0.703 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.2078 | likely_benign | None | None | -0.159 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.5121 | ambiguous | None | None | -0.349 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.4311 | ambiguous | None | None | -0.119 | 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.