Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21367 | 64324;64325;64326 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| N2AB | 19726 | 59401;59402;59403 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| N2A | 18799 | 56620;56621;56622 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| N2B | 12302 | 37129;37130;37131 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| Novex-1 | 12427 | 37504;37505;37506 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| Novex-2 | 12494 | 37705;37706;37707 | chr2:178586802;178586801;178586800 | chr2:179451529;179451528;179451527 |
| 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/L | rs754581725  |
-0.837 | 1.0 | D | 0.864 | 0.489 | None | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 6.5E-05 | 1.49441E-04 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| P/L | rs754581725 |
-0.837 | 1.0 | D | 0.864 | 0.489 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs754581725 |
-0.837 | 1.0 | D | 0.864 | 0.489 | None | gnomAD-4.0.0 | 8.70051E-06 | None | None | None | None | N | None | 2.68759E-05 | 1.19031E-04 | None | 0 | 0 | None | 0 | 1.65782E-04 | 2.54554E-06 | 1.1117E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.805 | 0.506 | 0.699797848082 | gnomAD-4.0.0 | 6.86244E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00429E-07 | 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 | 0.9429 | likely_pathogenic | 0.8881 | pathogenic | -1.68 | Destabilizing | 0.999 | D | 0.831 | deleterious | D | 0.535034209 | None | None | N |
| P/C | 0.9973 | likely_pathogenic | 0.9936 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.481 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -3.39 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/G | 0.9956 | likely_pathogenic | 0.9924 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/H | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/I | 0.9965 | likely_pathogenic | 0.9925 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.9904 | likely_pathogenic | 0.9819 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.552631485 | None | None | N |
| P/M | 0.9982 | likely_pathogenic | 0.9962 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.554152422 | None | None | N |
| P/R | 0.9981 | likely_pathogenic | 0.9966 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.542289137 | None | None | N |
| P/S | 0.9964 | likely_pathogenic | 0.9932 | pathogenic | -2.337 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.541528669 | None | None | N |
| P/T | 0.9926 | likely_pathogenic | 0.9853 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.535541188 | None | None | N |
| P/V | 0.9879 | likely_pathogenic | 0.9765 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.885 | 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.