Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9198 | 27817;27818;27819 | chr2:178712330;178712329;178712328 | chr2:179577057;179577056;179577055 |
| N2AB | 8881 | 26866;26867;26868 | chr2:178712330;178712329;178712328 | chr2:179577057;179577056;179577055 |
| N2A | 7954 | 24085;24086;24087 | chr2:178712330;178712329;178712328 | chr2:179577057;179577056;179577055 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs72648995  |
-0.02 | 0.159 | N | 0.195 | 0.098 | 0.236278675362 | gnomAD-2.1.1 | 1.16658E-04 | None | None | None | None | N | None | 0 | 8.40677E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs72648995 |
-0.02 | 0.159 | N | 0.195 | 0.098 | 0.236278675362 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96412E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs72648995 |
-0.02 | 0.159 | N | 0.195 | 0.098 | 0.236278675362 | gnomAD-4.0.0 | 4.7414E-05 | None | None | None | None | N | None | 0 | 5.932E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.68861E-05 |
| Q/R | rs368297438 |
0.217 | 0.178 | N | 0.317 | 0.107 | None | gnomAD-2.1.1 | 8.21E-05 | None | None | None | None | N | None | 9.50728E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs368297438 |
0.217 | 0.178 | N | 0.317 | 0.107 | None | gnomAD-3.1.2 | 2.36568E-04 | None | None | None | None | N | None | 8.44228E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs368297438 |
0.217 | 0.178 | N | 0.317 | 0.107 | None | gnomAD-4.0.0 | 3.65685E-05 | None | None | None | None | N | None | 7.47524E-04 | 3.33478E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1686 | likely_benign | 0.1705 | benign | -0.494 | Destabilizing | 0.001 | N | 0.133 | neutral | None | None | None | None | N |
| Q/C | 0.5706 | likely_pathogenic | 0.5402 | ambiguous | 0.128 | Stabilizing | 0.968 | D | 0.563 | neutral | None | None | None | None | N |
| Q/D | 0.2031 | likely_benign | 0.1935 | benign | -0.35 | Destabilizing | 0.365 | N | 0.326 | neutral | None | None | None | None | N |
| Q/E | 0.0696 | likely_benign | 0.0673 | benign | -0.337 | Destabilizing | 0.159 | N | 0.195 | neutral | N | 0.438567728 | None | None | N |
| Q/F | 0.5244 | ambiguous | 0.4971 | ambiguous | -0.553 | Destabilizing | 0.738 | D | 0.634 | neutral | None | None | None | None | N |
| Q/G | 0.2042 | likely_benign | 0.1914 | benign | -0.752 | Destabilizing | 0.111 | N | 0.351 | neutral | None | None | None | None | N |
| Q/H | 0.1365 | likely_benign | 0.1322 | benign | -0.792 | Destabilizing | 0.958 | D | 0.405 | neutral | N | 0.485940388 | None | None | N |
| Q/I | 0.3157 | likely_benign | 0.3044 | benign | 0.12 | Stabilizing | 0.223 | N | 0.47 | neutral | None | None | None | None | N |
| Q/K | 0.08 | likely_benign | 0.0779 | benign | -0.092 | Destabilizing | 0.002 | N | 0.087 | neutral | N | 0.478915628 | None | None | N |
| Q/L | 0.1161 | likely_benign | 0.1163 | benign | 0.12 | Stabilizing | 0.086 | N | 0.312 | neutral | N | 0.471317652 | None | None | N |
| Q/M | 0.3117 | likely_benign | 0.3035 | benign | 0.646 | Stabilizing | 0.908 | D | 0.409 | neutral | None | None | None | None | N |
| Q/N | 0.1517 | likely_benign | 0.1438 | benign | -0.512 | Destabilizing | 0.365 | N | 0.323 | neutral | None | None | None | None | N |
| Q/P | 0.2032 | likely_benign | 0.1752 | benign | -0.055 | Destabilizing | 0.68 | D | 0.443 | neutral | N | 0.489277635 | None | None | N |
| Q/R | 0.0869 | likely_benign | 0.0855 | benign | 0.028 | Stabilizing | 0.178 | N | 0.317 | neutral | N | 0.442245539 | None | None | N |
| Q/S | 0.1615 | likely_benign | 0.1539 | benign | -0.549 | Destabilizing | 0.111 | N | 0.205 | neutral | None | None | None | None | N |
| Q/T | 0.1507 | likely_benign | 0.1455 | benign | -0.361 | Destabilizing | 0.003 | N | 0.143 | neutral | None | None | None | None | N |
| Q/V | 0.2098 | likely_benign | 0.2102 | benign | -0.055 | Destabilizing | 0.008 | N | 0.211 | neutral | None | None | None | None | N |
| Q/W | 0.4078 | ambiguous | 0.3615 | ambiguous | -0.445 | Destabilizing | 0.991 | D | 0.551 | neutral | None | None | None | None | N |
| Q/Y | 0.3256 | likely_benign | 0.3053 | benign | -0.206 | Destabilizing | 0.896 | D | 0.574 | neutral | 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.