Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25773 | 77542;77543;77544 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| N2AB | 24132 | 72619;72620;72621 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| N2A | 23205 | 69838;69839;69840 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| N2B | 16708 | 50347;50348;50349 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| Novex-1 | 16833 | 50722;50723;50724 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| Novex-2 | 16900 | 50923;50924;50925 | chr2:178568815;178568814;178568813 | chr2:179433542;179433541;179433540 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 1.0 | D | 0.876 | 0.777 | 0.901024018679 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 0 | 0 |
| A/T | rs757299028  |
-1.879 | 1.0 | D | 0.789 | 0.777 | 0.680047386688 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11857E-04 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs757299028 |
-1.879 | 1.0 | D | 0.789 | 0.777 | 0.680047386688 | gnomAD-4.0.0 | 4.77753E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77824E-05 | None | 0 | 0 | 5.71961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9414 | likely_pathogenic | 0.9344 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.655686116 | None | None | N |
| A/E | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.704 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/F | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| A/G | 0.699 | likely_pathogenic | 0.7057 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.60903174 | None | None | N |
| A/H | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/I | 0.9891 | likely_pathogenic | 0.9891 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/L | 0.9593 | likely_pathogenic | 0.9611 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/M | 0.9879 | likely_pathogenic | 0.9863 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/N | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/P | 0.9863 | likely_pathogenic | 0.9851 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.617702194 | None | None | N |
| A/Q | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/R | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.5782 | likely_pathogenic | 0.5262 | ambiguous | -2.434 | Highly Destabilizing | 1.0 | D | 0.606 | neutral | D | 0.580798733 | None | None | N |
| A/T | 0.9256 | likely_pathogenic | 0.9086 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.598957579 | None | None | N |
| A/V | 0.9224 | likely_pathogenic | 0.9202 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.616693173 | None | None | N |
| A/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/Y | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.911 | 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.