Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6950 | 21073;21074;21075 | chr2:178724527;178724526;178724525 | chr2:179589254;179589253;179589252 |
| N2AB | 6633 | 20122;20123;20124 | chr2:178724527;178724526;178724525 | chr2:179589254;179589253;179589252 |
| N2A | 5706 | 17341;17342;17343 | chr2:178724527;178724526;178724525 | chr2:179589254;179589253;179589252 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/M | rs772569345  |
-0.955 | 0.998 | D | 0.701 | 0.631 | 0.64410640661 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.52E-05 | None | 0 | 0 | 0 |
| I/T | rs1553914315 |
-1.917 | 0.989 | N | 0.795 | 0.597 | 0.78814157021 | gnomAD-2.1.1 | 1.25E-05 | None | None | None | None | N | None | 0 | 3.03E-05 | None | 0 | 0 | None | 7.06E-05 | None | 0 | 0 | 0 |
| I/T | rs1553914315 |
-1.917 | 0.989 | N | 0.795 | 0.597 | 0.78814157021 | gnomAD-4.0.0 | 4.93517E-06 | None | None | None | None | N | None | 0 | 2.37643E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.95604E-05 | 0 |
| I/V | rs549440035 |
-1.332 | 0.333 | D | 0.255 | 0.276 | 0.621920094586 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs549440035 |
-1.332 | 0.333 | D | 0.255 | 0.276 | 0.621920094586 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs549440035 |
-1.332 | 0.333 | D | 0.255 | 0.276 | 0.621920094586 | gnomAD-4.0.0 | 1.97094E-05 | None | None | None | None | N | None | 4.81325E-05 | 6.54108E-05 | 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 | 0.8323 | likely_pathogenic | 0.7803 | pathogenic | -2.331 | Highly Destabilizing | 0.992 | D | 0.709 | prob.delet. | None | None | None | None | N |
| I/C | 0.9796 | likely_pathogenic | 0.9698 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| I/D | 0.996 | likely_pathogenic | 0.9934 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/E | 0.9896 | likely_pathogenic | 0.9841 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/F | 0.4802 | ambiguous | 0.409 | ambiguous | -1.361 | Destabilizing | 0.998 | D | 0.745 | deleterious | N | 0.413709356 | None | None | N |
| I/G | 0.99 | likely_pathogenic | 0.9842 | pathogenic | -2.822 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| I/H | 0.9899 | likely_pathogenic | 0.9839 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| I/K | 0.9862 | likely_pathogenic | 0.9783 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| I/L | 0.4051 | ambiguous | 0.3698 | ambiguous | -0.941 | Destabilizing | 0.889 | D | 0.539 | neutral | N | 0.518458238 | None | None | N |
| I/M | 0.3113 | likely_benign | 0.2813 | benign | -0.958 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | D | 0.523896892 | None | None | N |
| I/N | 0.9636 | likely_pathogenic | 0.9472 | pathogenic | -1.819 | Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.525164339 | None | None | N |
| I/P | 0.9597 | likely_pathogenic | 0.9439 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| I/Q | 0.9851 | likely_pathogenic | 0.9769 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| I/R | 0.9756 | likely_pathogenic | 0.9624 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| I/S | 0.9354 | likely_pathogenic | 0.9092 | pathogenic | -2.532 | Highly Destabilizing | 0.998 | D | 0.84 | deleterious | D | 0.52491085 | None | None | N |
| I/T | 0.7788 | likely_pathogenic | 0.7239 | pathogenic | -2.223 | Highly Destabilizing | 0.989 | D | 0.795 | deleterious | N | 0.506553105 | None | None | N |
| I/V | 0.1828 | likely_benign | 0.1573 | benign | -1.382 | Destabilizing | 0.333 | N | 0.255 | neutral | D | 0.528981876 | None | None | N |
| I/W | 0.9837 | likely_pathogenic | 0.9745 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/Y | 0.9533 | likely_pathogenic | 0.9376 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.769 | deleterious | 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.