Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2103 | 6532;6533;6534 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| N2AB | 2103 | 6532;6533;6534 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| N2A | 2103 | 6532;6533;6534 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| N2B | 2057 | 6394;6395;6396 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| Novex-1 | 2057 | 6394;6395;6396 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| Novex-2 | 2057 | 6394;6395;6396 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
| Novex-3 | 2103 | 6532;6533;6534 | chr2:178775557;178775556;178775555 | chr2:179640284;179640283;179640282 |
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/R | rs2092130428  |
None | 1.0 | D | 0.839 | 0.875 | 0.802305792746 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs2092130428 |
None | 1.0 | D | 0.839 | 0.875 | 0.802305792746 | gnomAD-4.0.0 | 2.47851E-06 | None | None | None | None | N | None | 2.6703E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69494E-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 | 0.8465 | likely_pathogenic | 0.8444 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.661518255 | None | None | N |
| G/C | 0.9849 | likely_pathogenic | 0.9835 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/D | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/E | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.833481802 | None | None | N |
| G/F | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/H | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/L | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/M | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/N | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/Q | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/R | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.82816045 | None | None | N |
| G/S | 0.8988 | likely_pathogenic | 0.8873 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/T | 0.9878 | likely_pathogenic | 0.9879 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/V | 0.9931 | likely_pathogenic | 0.9935 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.774580711 | None | None | N |
| G/W | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.827974172 | None | None | N |
| G/Y | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.78 | 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.