Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3696 | 11311;11312;11313 | chr2:178756390;178756389;178756388 | chr2:179621117;179621116;179621115 |
| 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 | 3525 | 10798;10799;10800 | chr2:178756390;178756389;178756388 | chr2:179621117;179621116;179621115 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs184205694  |
0.556 | None | None | None | 0.036 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.29166E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| E/K | rs184205694 |
0.556 | None | None | None | 0.036 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | rs184205694 |
0.556 | None | None | None | 0.036 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| E/K | rs184205694 |
0.556 | None | None | None | 0.036 | None | gnomAD-4.0.0 | 1.17735E-05 | None | None | None | None | I | None | 5.33163E-05 | 1.66678E-05 | None | 0 | 0 | None | 0 | 0 | 1.10187E-05 | 0 | 1.60051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1852 | likely_benign | None | None | -0.829 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.8031 | likely_pathogenic | None | None | -0.332 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.1698 | likely_benign | None | None | -0.607 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.8153 | likely_pathogenic | None | None | -0.363 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.1158 | likely_benign | None | None | -1.104 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.473 | ambiguous | None | None | -0.23 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.645 | likely_pathogenic | None | None | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.1194 | likely_benign | None | None | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.5235 | ambiguous | None | None | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.5675 | likely_pathogenic | None | None | 0.17 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.2428 | likely_benign | None | None | -0.612 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.9322 | likely_pathogenic | None | None | -0.324 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.1354 | likely_benign | None | None | -0.522 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.1934 | likely_benign | None | None | 0.248 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.2262 | likely_benign | None | None | -0.817 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.3984 | ambiguous | None | None | -0.581 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.4435 | ambiguous | None | None | -0.324 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9218 | likely_pathogenic | None | None | -0.057 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.6618 | likely_pathogenic | None | None | -0.092 | 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.