Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32567 | 97924;97925;97926 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| N2AB | 30926 | 93001;93002;93003 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| N2A | 29999 | 90220;90221;90222 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| N2B | 23502 | 70729;70730;70731 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| Novex-1 | 23627 | 71104;71105;71106 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| Novex-2 | 23694 | 71305;71306;71307 | chr2:178541378;178541377;178541376 | chr2:179406105;179406104;179406103 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs772113226  |
-1.096 | 1.0 | N | 0.803 | 0.618 | 0.440394187108 | gnomAD-2.1.1 | 1.66E-05 | None | None | None | None | N | None | 0 | 1.18645E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs772113226 |
-1.096 | 1.0 | N | 0.803 | 0.618 | 0.440394187108 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs772113226 |
-1.096 | 1.0 | N | 0.803 | 0.618 | 0.440394187108 | gnomAD-4.0.0 | 3.10841E-06 | None | None | None | None | N | None | 0 | 8.4076E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1488089891 |
None | 1.0 | N | 0.807 | 0.549 | 0.398581233421 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs1488089891 |
None | 1.0 | N | 0.807 | 0.549 | 0.398581233421 | gnomAD-4.0.0 | 2.02993E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20493E-06 | 4.69881E-05 | 0 |
| G/V | rs772113226 |
-0.411 | 1.0 | D | 0.846 | 0.78 | 0.704859303232 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.18E-06 | 0 |
| G/V | rs772113226 |
-0.411 | 1.0 | D | 0.846 | 0.78 | 0.704859303232 | gnomAD-4.0.0 | 2.05987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70459E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6229 | likely_pathogenic | 0.6523 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.48098816 | None | None | N |
| G/C | 0.6441 | likely_pathogenic | 0.683 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.541937197 | None | None | N |
| G/D | 0.5764 | likely_pathogenic | 0.651 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.476188767 | None | None | N |
| G/E | 0.7194 | likely_pathogenic | 0.7789 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/F | 0.8975 | likely_pathogenic | 0.9116 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/H | 0.8264 | likely_pathogenic | 0.8648 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.906 | likely_pathogenic | 0.9167 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/K | 0.8848 | likely_pathogenic | 0.921 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/L | 0.8847 | likely_pathogenic | 0.8959 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/M | 0.8805 | likely_pathogenic | 0.8949 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.5373 | ambiguous | 0.5738 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/P | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Q | 0.8095 | likely_pathogenic | 0.8567 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/R | 0.8291 | likely_pathogenic | 0.88 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.499688299 | None | None | N |
| G/S | 0.3778 | ambiguous | 0.4151 | ambiguous | -0.908 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.487380488 | None | None | N |
| G/T | 0.7114 | likely_pathogenic | 0.741 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.8491 | likely_pathogenic | 0.8718 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.530073912 | None | None | N |
| G/W | 0.8219 | likely_pathogenic | 0.8609 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/Y | 0.7947 | likely_pathogenic | 0.8187 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.818 | 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.