Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24912 | 74959;74960;74961 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| N2AB | 23271 | 70036;70037;70038 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| N2A | 22344 | 67255;67256;67257 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| N2B | 15847 | 47764;47765;47766 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| Novex-1 | 15972 | 48139;48140;48141 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| Novex-2 | 16039 | 48340;48341;48342 | chr2:178571398;178571397;178571396 | chr2:179436125;179436124;179436123 |
| 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/S | rs376072436  |
-2.766 | 1.0 | D | 0.859 | 0.675 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 | 0.6974 | likely_pathogenic | 0.6712 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.529661017 | None | None | N |
| P/C | 0.9342 | likely_pathogenic | 0.9276 | pathogenic | -2.366 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.288 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/G | 0.9836 | likely_pathogenic | 0.9832 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.576264781 | None | None | N |
| P/I | 0.9856 | likely_pathogenic | 0.9804 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/L | 0.9506 | likely_pathogenic | 0.9401 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.563134049 | None | None | N |
| P/M | 0.993 | likely_pathogenic | 0.9908 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/Q | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9947 | likely_pathogenic | 0.9931 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.575757802 | None | None | N |
| P/S | 0.9693 | likely_pathogenic | 0.9635 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.553134097 | None | None | N |
| P/T | 0.9592 | likely_pathogenic | 0.9386 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.575250823 | None | None | N |
| P/V | 0.9372 | likely_pathogenic | 0.9171 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.909 | 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.