Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31148 | 93667;93668;93669 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| N2AB | 29507 | 88744;88745;88746 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| N2A | 28580 | 85963;85964;85965 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| N2B | 22083 | 66472;66473;66474 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| Novex-1 | 22208 | 66847;66848;66849 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| Novex-2 | 22275 | 67048;67049;67050 | chr2:178548184;178548183;178548182 | chr2:179412911;179412910;179412909 |
| 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/H | rs373131310  |
-2.764 | 1.0 | D | 0.806 | 0.854 | None | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 1.23998E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 0 |
| Y/H | rs373131310 |
-2.764 | 1.0 | D | 0.806 | 0.854 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| Y/H | rs373131310 |
-2.764 | 1.0 | D | 0.806 | 0.854 | None | gnomAD-4.0.0 | 8.30348E-05 | None | None | None | None | N | None | 4.0047E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.06795E-04 | 0 | 8.00564E-05 |
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 | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/C | 0.9447 | likely_pathogenic | 0.9309 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.652119694 | None | None | N |
| Y/D | 0.9959 | likely_pathogenic | 0.9944 | pathogenic | -3.53 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.652321498 | None | None | N |
| Y/E | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -3.306 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| Y/F | 0.2986 | likely_benign | 0.3147 | benign | -1.043 | Destabilizing | 0.999 | D | 0.653 | neutral | D | 0.560930783 | None | None | N |
| Y/G | 0.992 | likely_pathogenic | 0.9902 | pathogenic | -3.336 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| Y/H | 0.982 | likely_pathogenic | 0.9794 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.651716086 | None | None | N |
| Y/I | 0.979 | likely_pathogenic | 0.9745 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/K | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/L | 0.9537 | likely_pathogenic | 0.9496 | pathogenic | -1.486 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| Y/M | 0.9882 | likely_pathogenic | 0.9869 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/N | 0.9778 | likely_pathogenic | 0.9713 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.652119694 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| Y/Q | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -2.652 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/R | 0.9964 | likely_pathogenic | 0.9952 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| Y/S | 0.9881 | likely_pathogenic | 0.9847 | pathogenic | -3.237 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.652119694 | None | None | N |
| Y/T | 0.9964 | likely_pathogenic | 0.9954 | pathogenic | -2.883 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/V | 0.967 | likely_pathogenic | 0.962 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| Y/W | 0.8801 | likely_pathogenic | 0.8716 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.793 | 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.