Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5474 | 16645;16646;16647 | chr2:178732641;178732640;178732639 | chr2:179597368;179597367;179597366 |
| N2AB | 5157 | 15694;15695;15696 | chr2:178732641;178732640;178732639 | chr2:179597368;179597367;179597366 |
| N2A | 4230 | 12913;12914;12915 | chr2:178732641;178732640;178732639 | chr2:179597368;179597367;179597366 |
| 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/K | rs1462774944  |
0.633 | None | N | 0.056 | 0.129 | 0.242825505644 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs1462774944 |
0.633 | None | N | 0.056 | 0.129 | 0.242825505644 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs1462774944 |
0.633 | None | N | 0.056 | 0.129 | 0.242825505644 | gnomAD-4.0.0 | 1.86017E-06 | None | None | None | None | I | None | 4.00684E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | None | N | 0.091 | 0.103 | 0.183819452728 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1565 | likely_benign | 0.1934 | benign | -0.253 | Destabilizing | 0.004 | N | 0.143 | neutral | None | None | None | None | I |
| Q/C | 0.3956 | ambiguous | 0.493 | ambiguous | 0.074 | Stabilizing | 0.497 | N | 0.248 | neutral | None | None | None | None | I |
| Q/D | 0.3282 | likely_benign | 0.4355 | ambiguous | 0.262 | Stabilizing | 0.018 | N | 0.18 | neutral | None | None | None | None | I |
| Q/E | 0.0837 | likely_benign | 0.0948 | benign | 0.264 | Stabilizing | 0.003 | N | 0.11 | neutral | N | 0.443936263 | None | None | I |
| Q/F | 0.4563 | ambiguous | 0.5477 | ambiguous | -0.379 | Destabilizing | 0.245 | N | 0.365 | neutral | None | None | None | None | I |
| Q/G | 0.2044 | likely_benign | 0.2669 | benign | -0.466 | Destabilizing | 0.018 | N | 0.219 | neutral | None | None | None | None | I |
| Q/H | 0.1189 | likely_benign | 0.1414 | benign | -0.241 | Destabilizing | None | N | 0.087 | neutral | N | 0.47839834 | None | None | I |
| Q/I | 0.2321 | likely_benign | 0.2922 | benign | 0.226 | Stabilizing | 0.022 | N | 0.389 | neutral | None | None | None | None | I |
| Q/K | 0.0611 | likely_benign | 0.0643 | benign | 0.164 | Stabilizing | None | N | 0.056 | neutral | N | 0.40565002 | None | None | I |
| Q/L | 0.1042 | likely_benign | 0.1217 | benign | 0.226 | Stabilizing | 0.007 | N | 0.212 | neutral | N | 0.484150876 | None | None | I |
| Q/M | 0.2562 | likely_benign | 0.3071 | benign | 0.359 | Stabilizing | 0.245 | N | 0.247 | neutral | None | None | None | None | I |
| Q/N | 0.2337 | likely_benign | 0.2988 | benign | -0.313 | Destabilizing | 0.018 | N | 0.165 | neutral | None | None | None | None | I |
| Q/P | 0.4047 | ambiguous | 0.571 | pathogenic | 0.096 | Stabilizing | 0.065 | N | 0.309 | neutral | N | 0.506854378 | None | None | I |
| Q/R | 0.0608 | likely_benign | 0.0652 | benign | 0.29 | Stabilizing | None | N | 0.091 | neutral | N | 0.41405886 | None | None | I |
| Q/S | 0.158 | likely_benign | 0.1962 | benign | -0.338 | Destabilizing | 0.004 | N | 0.113 | neutral | None | None | None | None | I |
| Q/T | 0.1057 | likely_benign | 0.1333 | benign | -0.161 | Destabilizing | None | N | 0.076 | neutral | None | None | None | None | I |
| Q/V | 0.1682 | likely_benign | 0.2065 | benign | 0.096 | Stabilizing | 0.009 | N | 0.215 | neutral | None | None | None | None | I |
| Q/W | 0.3086 | likely_benign | 0.3976 | ambiguous | -0.328 | Destabilizing | 0.788 | D | 0.237 | neutral | None | None | None | None | I |
| Q/Y | 0.2914 | likely_benign | 0.3604 | ambiguous | -0.066 | Destabilizing | 0.044 | N | 0.367 | neutral | 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.