Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20769 | 62530;62531;62532 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| N2AB | 19128 | 57607;57608;57609 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| N2A | 18201 | 54826;54827;54828 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| N2B | 11704 | 35335;35336;35337 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| Novex-1 | 11829 | 35710;35711;35712 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| Novex-2 | 11896 | 35911;35912;35913 | chr2:178589420;178589419;178589418 | chr2:179454147;179454146;179454145 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs772498581  |
None | 1.0 | D | 0.796 | 0.623 | 0.872428163933 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | -1.364 | 1.0 | D | 0.792 | 0.648 | 0.725290542326 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| P/Q | None | -1.364 | 1.0 | D | 0.792 | 0.648 | 0.725290542326 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | -1.364 | 1.0 | D | 0.792 | 0.648 | 0.725290542326 | gnomAD-4.0.0 | 1.85963E-06 | None | None | None | None | N | None | 2.67158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47722E-07 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.775 | 0.612 | 0.704159939526 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9438 | likely_pathogenic | 0.9228 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.541155709 | None | None | N |
| P/C | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/E | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/G | 0.9956 | likely_pathogenic | 0.9916 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/H | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/I | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/L | 0.9914 | likely_pathogenic | 0.9898 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.557578679 | None | None | N |
| P/M | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/Q | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.557780483 | None | None | N |
| P/R | 0.9988 | likely_pathogenic | 0.9978 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.557780483 | None | None | N |
| P/S | 0.9976 | likely_pathogenic | 0.9954 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.557376874 | None | None | N |
| P/T | 0.9951 | likely_pathogenic | 0.9921 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.557578679 | None | None | N |
| P/V | 0.9836 | likely_pathogenic | 0.9844 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.796 | 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.