Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3739 | 11440;11441;11442 | chr2:178756261;178756260;178756259 | chr2:179620988;179620987;179620986 |
| 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 | 3568 | 10927;10928;10929 | chr2:178756261;178756260;178756259 | chr2:179620988;179620987;179620986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs371678138  |
-1.759 | None | None | None | 0.288 | 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 |
| G/E | rs371678138 |
-1.759 | None | None | None | 0.288 | None | gnomAD-4.0.0 | 4.10651E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39839E-06 | 0 | 0 |
| G/R | None | None | None | None | None | 0.312 | None | gnomAD-4.0.0 | 6.84404E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99726E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2955 | likely_benign | None | None | -0.766 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.4383 | ambiguous | None | None | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.4491 | ambiguous | None | None | -1.852 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.4004 | ambiguous | None | None | -1.994 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.8064 | likely_pathogenic | None | None | -1.405 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.6491 | likely_pathogenic | None | None | -1.283 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.6303 | likely_pathogenic | None | None | -0.71 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.5214 | ambiguous | None | None | -1.487 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.702 | likely_pathogenic | None | None | -0.71 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.7428 | likely_pathogenic | None | None | -0.348 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.5884 | likely_pathogenic | None | None | -1.009 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9578 | likely_pathogenic | None | None | -0.695 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.4834 | ambiguous | None | None | -1.361 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.338 | likely_benign | None | None | -0.905 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.1811 | likely_benign | None | None | -1.016 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.4207 | ambiguous | None | None | -1.126 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.5052 | ambiguous | None | None | -0.695 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.6311 | likely_pathogenic | None | None | -1.641 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.6871 | likely_pathogenic | None | None | -1.34 | 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.