Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32920 | 98983;98984;98985 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| N2AB | 31279 | 94060;94061;94062 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| N2A | 30352 | 91279;91280;91281 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| N2B | 23855 | 71788;71789;71790 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| Novex-1 | 23980 | 72163;72164;72165 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| Novex-2 | 24047 | 72364;72365;72366 | chr2:178539177;178539176;178539175 | chr2:179403904;179403903;179403902 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs752015224  |
-0.483 | 1.0 | N | 0.742 | 0.317 | None | gnomAD-2.1.1 | 6.42E-05 | None | None | None | None | N | None | 0 | 8.49E-05 | None | 0 | 0 | None | 1.63388E-04 | None | 1.19933E-04 | 5.46E-05 | 0 |
| R/Q | rs752015224 |
-0.483 | 1.0 | N | 0.742 | 0.317 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88857E-04 | 0 | 4.41E-05 | 0 | 0 |
| R/Q | rs752015224 |
-0.483 | 1.0 | N | 0.742 | 0.317 | None | gnomAD-4.0.0 | 3.84243E-05 | None | None | None | None | N | None | 1.3359E-05 | 8.3375E-05 | None | 0 | 2.22876E-05 | None | 1.09399E-04 | 0 | 2.79719E-05 | 1.53718E-04 | 1.60118E-05 |
| R/W | rs755031142 |
-0.327 | 1.0 | N | 0.785 | 0.441 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/W | rs755031142 |
-0.327 | 1.0 | N | 0.785 | 0.441 | None | gnomAD-4.0.0 | 6.15791E-06 | None | None | None | None | N | None | 0 | 6.70901E-05 | None | 0 | 0 | None | 0 | 0 | 3.59794E-06 | 1.15931E-05 | 1.65656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8041 | likely_pathogenic | 0.8048 | pathogenic | -0.164 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| R/C | 0.542 | ambiguous | 0.5334 | ambiguous | -0.481 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| R/D | 0.955 | likely_pathogenic | 0.9589 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| R/E | 0.8187 | likely_pathogenic | 0.8162 | pathogenic | -0.115 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| R/F | 0.8809 | likely_pathogenic | 0.8654 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| R/G | 0.7509 | likely_pathogenic | 0.7723 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.474709382 | None | None | N |
| R/H | 0.3137 | likely_benign | 0.2957 | benign | -1.001 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/I | 0.6881 | likely_pathogenic | 0.6813 | pathogenic | 0.471 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/K | 0.1862 | likely_benign | 0.1775 | benign | -0.193 | Destabilizing | 0.998 | D | 0.551 | neutral | None | None | None | None | N |
| R/L | 0.5732 | likely_pathogenic | 0.5616 | ambiguous | 0.471 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.502992061 | None | None | N |
| R/M | 0.7279 | likely_pathogenic | 0.7199 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/N | 0.9246 | likely_pathogenic | 0.9285 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/P | 0.7122 | likely_pathogenic | 0.7031 | pathogenic | 0.28 | Stabilizing | 1.0 | D | 0.775 | deleterious | N | 0.377059831 | None | None | N |
| R/Q | 0.3257 | likely_benign | 0.3154 | benign | -0.181 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.461780157 | None | None | N |
| R/S | 0.8838 | likely_pathogenic | 0.8875 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/T | 0.7669 | likely_pathogenic | 0.7824 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/V | 0.7481 | likely_pathogenic | 0.7372 | pathogenic | 0.28 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/W | 0.5416 | ambiguous | 0.5353 | ambiguous | -0.251 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.475990367 | None | None | N |
| R/Y | 0.7884 | likely_pathogenic | 0.7644 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.793 | 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.