Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3674 | 11245;11246;11247 | chr2:178756456;178756455;178756454 | chr2:179621183;179621182;179621181 |
| 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 | 3503 | 10732;10733;10734 | chr2:178756456;178756455;178756454 | chr2:179621183;179621182;179621181 |
| 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/S | rs752146394  |
-0.647 | None | None | None | 0.241 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11744E-04 | None | 3.27E-05 | None | 0 | 4.44E-05 | 0 |
| G/S | rs752146394 |
-0.647 | None | None | None | 0.241 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs752146394 |
-0.647 | None | None | None | 0.241 | None | gnomAD-4.0.0 | 3.96626E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.69165E-05 | None | 0 | 4.93097E-04 | 4.577E-05 | 1.09801E-05 | 4.80323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.468 | ambiguous | None | None | -0.511 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.5526 | ambiguous | None | None | -0.918 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.3996 | ambiguous | None | None | -1.141 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.4133 | ambiguous | None | None | -1.304 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.8952 | likely_pathogenic | None | None | -1.305 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.664 | likely_pathogenic | None | None | -0.746 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.8658 | likely_pathogenic | None | None | -0.61 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.587 | likely_pathogenic | None | None | -0.946 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.847 | likely_pathogenic | None | None | -0.61 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.8629 | likely_pathogenic | None | None | -0.378 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.4937 | ambiguous | None | None | -0.63 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9839 | likely_pathogenic | None | None | -0.544 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.5137 | ambiguous | None | None | -1.002 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.3924 | ambiguous | None | None | -0.413 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.2111 | likely_benign | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.5639 | ambiguous | None | None | -0.852 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.7858 | likely_pathogenic | None | None | -0.544 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.6956 | likely_pathogenic | None | None | -1.434 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.7981 | likely_pathogenic | None | None | -1.09 | 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.