Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28873 | 86842;86843;86844 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| N2AB | 27232 | 81919;81920;81921 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| N2A | 26305 | 79138;79139;79140 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| N2B | 19808 | 59647;59648;59649 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| Novex-1 | 19933 | 60022;60023;60024 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| Novex-2 | 20000 | 60223;60224;60225 | chr2:178559515;178559514;178559513 | chr2:179424242;179424241;179424240 |
| 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 | rs1316147822  |
-0.378 | 1.0 | N | 0.835 | 0.49 | 0.432493127443 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1316147822 |
-0.378 | 1.0 | N | 0.835 | 0.49 | 0.432493127443 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| G/S | rs751192122 |
-0.52 | 1.0 | N | 0.8 | 0.496 | 0.350964488264 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs751192122 |
-0.52 | 1.0 | N | 0.8 | 0.496 | 0.350964488264 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 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 | 0.9619 | likely_pathogenic | 0.9538 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.508755837 | None | None | I |
| G/C | 0.9888 | likely_pathogenic | 0.9857 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.53652133 | None | None | I |
| G/D | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.515628691 | None | None | I |
| G/E | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/M | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/R | 0.9928 | likely_pathogenic | 0.9916 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.494018943 | None | None | I |
| G/S | 0.958 | likely_pathogenic | 0.9492 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.507488389 | None | None | I |
| G/T | 0.9954 | likely_pathogenic | 0.9947 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.517910096 | None | None | I |
| G/W | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
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.