Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18052 | 54379;54380;54381 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| N2AB | 16411 | 49456;49457;49458 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| N2A | 15484 | 46675;46676;46677 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| N2B | 8987 | 27184;27185;27186 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| Novex-1 | 9112 | 27559;27560;27561 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| Novex-2 | 9179 | 27760;27761;27762 | chr2:178605023;178605022;178605021 | chr2:179469750;179469749;179469748 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.723 | 0.726 | 0.564282080094 | gnomAD-4.0.0 | 2.06506E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71118E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.804 | 0.733 | 0.557792573389 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8952 | likely_pathogenic | 0.884 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.571815751 | None | None | I |
| G/C | 0.9685 | likely_pathogenic | 0.9702 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.610172921 | None | None | I |
| G/D | 0.9803 | likely_pathogenic | 0.9738 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.58325254 | None | None | I |
| G/E | 0.9913 | likely_pathogenic | 0.9879 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/F | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/H | 0.9938 | likely_pathogenic | 0.9922 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9949 | likely_pathogenic | 0.995 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/K | 0.995 | likely_pathogenic | 0.9938 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/L | 0.9914 | likely_pathogenic | 0.9904 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.9829 | likely_pathogenic | 0.9795 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/Q | 0.9887 | likely_pathogenic | 0.9869 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/R | 0.9877 | likely_pathogenic | 0.9854 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.625415425 | None | None | I |
| G/S | 0.8712 | likely_pathogenic | 0.8634 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.571210338 | None | None | I |
| G/T | 0.9773 | likely_pathogenic | 0.9775 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/V | 0.9883 | likely_pathogenic | 0.9888 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.609769312 | None | None | I |
| G/W | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Y | 0.9943 | likely_pathogenic | 0.9926 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
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.