Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18093 | 54502;54503;54504 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| N2AB | 16452 | 49579;49580;49581 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| N2A | 15525 | 46798;46799;46800 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| N2B | 9028 | 27307;27308;27309 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| Novex-1 | 9153 | 27682;27683;27684 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| Novex-2 | 9220 | 27883;27884;27885 | chr2:178604812;178604811;178604810 | chr2:179469539;179469538;179469537 |
| 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 | rs766855804  |
None | 1.0 | N | 0.841 | 0.575 | 0.363751660372 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9516E-04 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| G/D | rs766855804 |
None | 1.0 | N | 0.841 | 0.575 | 0.363751660372 | gnomAD-4.0.0 | 3.85033E-06 | None | None | None | None | I | None | 1.69624E-05 | 0 | None | 0 | 2.43653E-05 | None | 1.57006E-05 | 0 | 0 | 0 | 0 |
| G/V | rs766855804 |
-0.274 | 1.0 | N | 0.811 | 0.649 | 0.761891265402 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/V | rs766855804 |
-0.274 | 1.0 | N | 0.811 | 0.649 | 0.761891265402 | gnomAD-4.0.0 | 7.96978E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43167E-05 | 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 | 0.9728 | likely_pathogenic | 0.9742 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.511882935 | None | None | I |
| G/C | 0.9949 | likely_pathogenic | 0.9955 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.531254638 | None | None | I |
| G/D | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.517109948 | None | None | I |
| G/E | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/I | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/Q | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.503235655 | None | None | I |
| G/S | 0.9773 | likely_pathogenic | 0.9789 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.510615488 | None | None | I |
| G/T | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/V | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.507870464 | None | None | I |
| G/W | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.777 | 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.