Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5075 | 15448;15449;15450 | chr2:178734601;178734600;178734599 | chr2:179599328;179599327;179599326 |
| N2AB | 4758 | 14497;14498;14499 | chr2:178734601;178734600;178734599 | chr2:179599328;179599327;179599326 |
| N2A | 3831 | 11716;11717;11718 | chr2:178734601;178734600;178734599 | chr2:179599328;179599327;179599326 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs748837287  |
-1.366 | 1.0 | D | 0.833 | 0.849 | 0.748558836882 | gnomAD-2.1.1 | 4.77E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.01E-05 | 0 |
| P/A | rs748837287 |
-1.366 | 1.0 | D | 0.833 | 0.849 | 0.748558836882 | gnomAD-4.0.0 | 5.17204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.9516E-05 | 0 | 6.11714E-06 | 0 | 0 |
| P/L | rs1553929816 |
None | 1.0 | D | 0.897 | 0.87 | 0.928938614015 | gnomAD-4.0.0 | 7.07426E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18285E-07 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.896 | 0.86 | 0.763806045514 | gnomAD-4.0.0 | 1.72401E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.05857E-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 | 0.8272 | likely_pathogenic | 0.7545 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.748402522 | None | None | N |
| P/C | 0.9934 | likely_pathogenic | 0.9899 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/G | 0.9949 | likely_pathogenic | 0.9908 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.779295554 | None | None | N |
| P/I | 0.9701 | likely_pathogenic | 0.959 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/L | 0.9244 | likely_pathogenic | 0.9026 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.701033424 | None | None | N |
| P/M | 0.9935 | likely_pathogenic | 0.9905 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9947 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/R | 0.9958 | likely_pathogenic | 0.9936 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.779767585 | None | None | N |
| P/S | 0.9852 | likely_pathogenic | 0.9786 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.779677274 | None | None | N |
| P/T | 0.9754 | likely_pathogenic | 0.9643 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.779767585 | None | None | N |
| P/V | 0.9251 | likely_pathogenic | 0.8999 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.897 | 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.