Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2938 | 9037;9038;9039 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| N2AB | 2938 | 9037;9038;9039 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| N2A | 2938 | 9037;9038;9039 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| N2B | 2892 | 8899;8900;8901 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| Novex-1 | 2892 | 8899;8900;8901 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| Novex-2 | 2892 | 8899;8900;8901 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
| Novex-3 | 2938 | 9037;9038;9039 | chr2:178769769;178769768;178769767 | chr2:179634496;179634495;179634494 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs755055056  |
-1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.98153E-04 | 0 | 0 |
| L/V | rs755055056 |
-1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88786E-04 | 0 | 0 | 0 | 0 |
| L/V | rs755055056 |
-1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-4.0.0 | 1.79312E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.1967E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9882 | likely_pathogenic | 0.9867 | pathogenic | -2.022 | Highly Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| L/C | 0.9683 | likely_pathogenic | 0.9695 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.769 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| L/E | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| L/F | 0.9079 | likely_pathogenic | 0.9051 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| L/G | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -2.573 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| L/H | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/I | 0.7203 | likely_pathogenic | 0.686 | pathogenic | -0.356 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| L/K | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/M | 0.5995 | likely_pathogenic | 0.573 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.640441494 | None | None | N |
| L/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.241 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.763009179 | None | None | N |
| L/Q | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.763009179 | None | None | N |
| L/R | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.763009179 | None | None | N |
| L/S | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.614 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| L/T | 0.997 | likely_pathogenic | 0.9964 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| L/V | 0.7907 | likely_pathogenic | 0.7641 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.684756278 | None | None | N |
| L/W | 0.9953 | likely_pathogenic | 0.9953 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/Y | 0.992 | likely_pathogenic | 0.9919 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.851 | 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.