Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3676 | 11251;11252;11253 | chr2:178756450;178756449;178756448 | chr2:179621177;179621176;179621175 |
| 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 | 3505 | 10738;10739;10740 | chr2:178756450;178756449;178756448 | chr2:179621177;179621176;179621175 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs1437975298  |
0.309 | None | None | None | 0.078 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.65837E-04 |
| T/M | rs1437975298 |
0.309 | None | None | None | 0.078 | 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 |
| T/M | rs1437975298 |
0.309 | None | None | None | 0.078 | None | gnomAD-4.0.0 | 2.5408E-05 | None | None | None | None | I | None | 1.33479E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54273E-05 | 1.09794E-05 | 1.44097E-04 |
| T/S | rs780517993 |
-0.572 | None | None | None | 0.062 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1009 | likely_benign | None | None | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.5582 | ambiguous | None | None | -0.301 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.4385 | ambiguous | None | None | -0.109 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.2952 | likely_benign | None | None | -0.153 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.322 | likely_benign | None | None | -0.896 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.4136 | ambiguous | None | None | -0.835 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.3178 | likely_benign | None | None | -1.122 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.1865 | likely_benign | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.2006 | likely_benign | None | None | -0.607 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.1639 | likely_benign | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.1072 | likely_benign | None | None | 0.145 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.1663 | likely_benign | None | None | -0.412 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.2403 | likely_benign | None | None | -0.313 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.2683 | likely_benign | None | None | -0.652 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.1528 | likely_benign | None | None | -0.29 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.147 | likely_benign | None | None | -0.665 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.172 | likely_benign | None | None | -0.313 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.7247 | likely_pathogenic | None | None | -0.84 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.3512 | ambiguous | None | None | -0.602 | 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.