Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26357 | 79294;79295;79296 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| N2AB | 24716 | 74371;74372;74373 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| N2A | 23789 | 71590;71591;71592 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| N2B | 17292 | 52099;52100;52101 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| Novex-1 | 17417 | 52474;52475;52476 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| Novex-2 | 17484 | 52675;52676;52677 | chr2:178567063;178567062;178567061 | chr2:179431790;179431789;179431788 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1461657543  |
-2.146 | 1.0 | D | 0.874 | 0.896 | 0.929074817726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs1461657543 |
-2.146 | 1.0 | D | 0.874 | 0.896 | 0.929074817726 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Y/C | rs1461657543 |
-2.146 | 1.0 | D | 0.874 | 0.896 | 0.929074817726 | gnomAD-4.0.0 | 2.47918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47731E-07 | 3.29381E-05 | 0 |
| Y/H | None | None | 1.0 | D | 0.843 | 0.899 | 0.841956266646 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85923E-06 | 0 | 0 |
| Y/N | rs973899750 |
None | 1.0 | D | 0.875 | 0.902 | 0.945343915475 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs973899750 |
None | 1.0 | D | 0.875 | 0.902 | 0.945343915475 | gnomAD-4.0.0 | 2.62957E-05 | None | None | None | None | N | None | 9.65204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -3.314 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/C | 0.9929 | likely_pathogenic | 0.9891 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.694295043 | None | None | N |
| Y/D | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -3.672 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.694295043 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.488 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/F | 0.781 | likely_pathogenic | 0.7151 | pathogenic | -1.239 | Destabilizing | 0.999 | D | 0.757 | deleterious | D | 0.639080934 | None | None | N |
| Y/G | 0.9902 | likely_pathogenic | 0.9896 | pathogenic | -3.697 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/H | 0.9983 | likely_pathogenic | 0.9972 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.678275682 | None | None | N |
| Y/I | 0.9865 | likely_pathogenic | 0.9821 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/L | 0.9702 | likely_pathogenic | 0.9621 | pathogenic | -2.028 | Highly Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/M | 0.9932 | likely_pathogenic | 0.9896 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/N | 0.9875 | likely_pathogenic | 0.9858 | pathogenic | -3.035 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.694093238 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.855 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/R | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/S | 0.9952 | likely_pathogenic | 0.9938 | pathogenic | -3.361 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.678275682 | None | None | N |
| Y/T | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -3.07 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/V | 0.9693 | likely_pathogenic | 0.962 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/W | 0.9825 | likely_pathogenic | 0.9745 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.823 | 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.