Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3719 | 11380;11381;11382 | chr2:178756321;178756320;178756319 | chr2:179621048;179621047;179621046 |
| 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 | 3548 | 10867;10868;10869 | chr2:178756321;178756320;178756319 | chr2:179621048;179621047;179621046 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs758911977  |
None | None | None | None | 0.266 | None | gnomAD-4.0.0 | 6.84188E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51978E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs758911977 |
-1.369 | None | None | None | 0.258 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23987E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs758911977 |
-1.369 | None | None | None | 0.258 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs758911977 |
-1.369 | None | None | None | 0.258 | None | gnomAD-4.0.0 | 1.85897E-06 | None | None | None | None | N | None | 4.00342E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8519 | likely_pathogenic | None | None | -2.797 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9392 | likely_pathogenic | None | None | -2.304 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9856 | likely_pathogenic | None | None | -3.431 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9773 | likely_pathogenic | None | None | -3.156 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.418 | ambiguous | None | None | -1.698 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.9766 | likely_pathogenic | None | None | -3.4 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9469 | likely_pathogenic | None | None | -2.987 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9388 | likely_pathogenic | None | None | -2.257 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2286 | likely_benign | None | None | -1.021 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.3253 | likely_benign | None | None | -1.131 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.8847 | likely_pathogenic | None | None | -2.785 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.9871 | likely_pathogenic | None | None | -1.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.958 | likely_pathogenic | None | None | -2.551 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8943 | likely_pathogenic | None | None | -2.067 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.879 | likely_pathogenic | None | None | -3.465 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.8882 | likely_pathogenic | None | None | -3.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.125 | likely_benign | None | None | -1.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.9699 | likely_pathogenic | None | None | -2.168 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8565 | likely_pathogenic | None | None | -1.894 | 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.