Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1135 | 3628;3629;3630 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| N2AB | 1135 | 3628;3629;3630 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| N2A | 1135 | 3628;3629;3630 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| N2B | 1089 | 3490;3491;3492 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| Novex-1 | 1089 | 3490;3491;3492 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| Novex-2 | 1089 | 3490;3491;3492 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
| Novex-3 | 1135 | 3628;3629;3630 | chr2:178781241;178781240;178781239 | chr2:179645968;179645967;179645966 |
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 | rs551245931  |
-0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs551245931 |
-0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs551245931 |
-0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Q/E | rs551245931 |
-0.004 | None | N | 0.146 | 0.132 | 0.0846915920261 | gnomAD-4.0.0 | 6.56625E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | None | None | 0.794 | N | 0.18 | 0.094 | 0.143124449307 | gnomAD-4.0.0 | 1.20036E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31255E-06 | 0 | 0 |
| Q/P | None | None | 0.523 | N | 0.282 | 0.309 | 0.239305524855 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.1645 | likely_benign | 0.1652 | benign | -0.094 | Destabilizing | 0.129 | N | 0.268 | neutral | None | None | None | None | I |
| Q/C | 0.8332 | likely_pathogenic | 0.8016 | pathogenic | -0.021 | Destabilizing | 0.983 | D | 0.163 | neutral | None | None | None | None | I |
| Q/D | 0.2022 | likely_benign | 0.2064 | benign | -0.155 | Destabilizing | None | N | 0.148 | neutral | None | None | None | None | I |
| Q/E | 0.0595 | likely_benign | 0.0624 | benign | -0.216 | Destabilizing | None | N | 0.146 | neutral | N | 0.388378873 | None | None | I |
| Q/F | 0.7241 | likely_pathogenic | 0.7012 | pathogenic | -0.53 | Destabilizing | 0.94 | D | 0.199 | neutral | None | None | None | None | I |
| Q/G | 0.2691 | likely_benign | 0.2639 | benign | -0.186 | Destabilizing | 0.228 | N | 0.215 | neutral | None | None | None | None | I |
| Q/H | 0.24 | likely_benign | 0.2197 | benign | -0.022 | Destabilizing | 0.794 | D | 0.18 | neutral | N | 0.439820538 | None | None | I |
| Q/I | 0.3185 | likely_benign | 0.3262 | benign | 0.051 | Stabilizing | 0.836 | D | 0.26 | neutral | None | None | None | None | I |
| Q/K | 0.1081 | likely_benign | 0.1068 | benign | 0.026 | Stabilizing | 0.101 | N | 0.179 | neutral | N | 0.432494641 | None | None | I |
| Q/L | 0.1244 | likely_benign | 0.1292 | benign | 0.051 | Stabilizing | 0.351 | N | 0.244 | neutral | N | 0.418788138 | None | None | I |
| Q/M | 0.3129 | likely_benign | 0.3147 | benign | 0.118 | Stabilizing | 0.94 | D | 0.191 | neutral | None | None | None | None | I |
| Q/N | 0.1822 | likely_benign | 0.1866 | benign | -0.165 | Destabilizing | 0.228 | N | 0.189 | neutral | None | None | None | None | I |
| Q/P | 0.2148 | likely_benign | 0.2346 | benign | 0.025 | Stabilizing | 0.523 | D | 0.282 | neutral | N | 0.431187943 | None | None | I |
| Q/R | 0.1537 | likely_benign | 0.1466 | benign | 0.216 | Stabilizing | 0.351 | N | 0.197 | neutral | N | 0.413080835 | None | None | I |
| Q/S | 0.2112 | likely_benign | 0.2102 | benign | -0.165 | Destabilizing | 0.129 | N | 0.191 | neutral | None | None | None | None | I |
| Q/T | 0.1733 | likely_benign | 0.1779 | benign | -0.11 | Destabilizing | 0.228 | N | 0.235 | neutral | None | None | None | None | I |
| Q/V | 0.2091 | likely_benign | 0.2145 | benign | 0.025 | Stabilizing | 0.418 | N | 0.246 | neutral | None | None | None | None | I |
| Q/W | 0.7013 | likely_pathogenic | 0.6802 | pathogenic | -0.608 | Destabilizing | 0.983 | D | 0.192 | neutral | None | None | None | None | I |
| Q/Y | 0.5359 | ambiguous | 0.5008 | ambiguous | -0.314 | Destabilizing | 0.94 | D | 0.24 | 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.