Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31638 | 95137;95138;95139 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| N2AB | 29997 | 90214;90215;90216 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| N2A | 29070 | 87433;87434;87435 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| N2B | 22573 | 67942;67943;67944 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| Novex-1 | 22698 | 68317;68318;68319 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| Novex-2 | 22765 | 68518;68519;68520 | chr2:178546419;178546418;178546417 | chr2:179411146;179411145;179411144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1194896401  |
-0.125 | 0.977 | N | 0.739 | 0.383 | 0.53754225682 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | rs1194896401 |
-0.125 | 0.977 | N | 0.739 | 0.383 | 0.53754225682 | gnomAD-4.0.0 | 6.84227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 8.09539E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4114 | ambiguous | 0.4417 | ambiguous | -0.774 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.4104 | ambiguous | 0.3872 | ambiguous | -0.656 | Destabilizing | 0.995 | D | 0.752 | deleterious | None | None | None | None | N |
| A/E | 0.3433 | ambiguous | 0.3396 | benign | -0.81 | Destabilizing | 0.993 | D | 0.739 | prob.delet. | N | 0.458001638 | None | None | N |
| A/F | 0.3107 | likely_benign | 0.3038 | benign | -0.893 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| A/G | 0.1917 | likely_benign | 0.1881 | benign | -0.288 | Destabilizing | 0.955 | D | 0.579 | neutral | N | 0.506950378 | None | None | N |
| A/H | 0.4982 | ambiguous | 0.5254 | ambiguous | -0.304 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/I | 0.2128 | likely_benign | 0.208 | benign | -0.339 | Destabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | N |
| A/K | 0.5687 | likely_pathogenic | 0.5826 | pathogenic | -0.684 | Destabilizing | 0.995 | D | 0.753 | deleterious | None | None | None | None | N |
| A/L | 0.1485 | likely_benign | 0.1546 | benign | -0.339 | Destabilizing | 0.983 | D | 0.741 | deleterious | None | None | None | None | N |
| A/M | 0.1878 | likely_benign | 0.1913 | benign | -0.438 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/N | 0.2888 | likely_benign | 0.2819 | benign | -0.357 | Destabilizing | 0.995 | D | 0.742 | deleterious | None | None | None | None | N |
| A/P | 0.671 | likely_pathogenic | 0.6237 | pathogenic | -0.277 | Destabilizing | 0.997 | D | 0.783 | deleterious | N | 0.379543641 | None | None | N |
| A/Q | 0.3757 | ambiguous | 0.3954 | ambiguous | -0.646 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| A/R | 0.4958 | ambiguous | 0.5168 | ambiguous | -0.185 | Destabilizing | 0.995 | D | 0.791 | deleterious | None | None | None | None | N |
| A/S | 0.0943 | likely_benign | 0.0925 | benign | -0.519 | Destabilizing | 0.568 | D | 0.431 | neutral | N | 0.457521636 | None | None | N |
| A/T | 0.0848 | likely_benign | 0.0826 | benign | -0.598 | Destabilizing | 0.955 | D | 0.673 | neutral | N | 0.431276397 | None | None | N |
| A/V | 0.1086 | likely_benign | 0.109 | benign | -0.277 | Destabilizing | 0.977 | D | 0.739 | prob.delet. | N | 0.427585518 | None | None | N |
| A/W | 0.7159 | likely_pathogenic | 0.7334 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/Y | 0.4883 | ambiguous | 0.4854 | ambiguous | -0.69 | 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.