Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7347 | 22264;22265;22266 | chr2:178722860;178722859;178722858 | chr2:179587587;179587586;179587585 |
| N2AB | 7030 | 21313;21314;21315 | chr2:178722860;178722859;178722858 | chr2:179587587;179587586;179587585 |
| N2A | 6103 | 18532;18533;18534 | chr2:178722860;178722859;178722858 | chr2:179587587;179587586;179587585 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1359754877  |
-0.608 | 0.005 | N | 0.099 | 0.13 | 0.28058544554 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/G | rs1359754877 |
-0.608 | 0.005 | N | 0.099 | 0.13 | 0.28058544554 | gnomAD-4.0.0 | 8.21399E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07963E-05 | 0 | 0 |
| A/S | None | None | 0.022 | N | 0.101 | 0.106 | 0.206339911435 | gnomAD-4.0.0 | 2.05346E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79935E-06 | 0 | 1.65815E-05 |
| A/T | rs1553911494 |
None | 0.051 | N | 0.188 | 0.141 | 0.269111216191 | gnomAD-4.0.0 | 6.84487E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99677E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6696 | likely_pathogenic | 0.743 | pathogenic | -0.597 | Destabilizing | 0.998 | D | 0.363 | neutral | None | None | None | None | I |
| A/D | 0.222 | likely_benign | 0.2874 | benign | -1.336 | Destabilizing | 0.801 | D | 0.378 | neutral | N | 0.396801251 | None | None | I |
| A/E | 0.2614 | likely_benign | 0.3004 | benign | -1.295 | Destabilizing | 0.842 | D | 0.331 | neutral | None | None | None | None | I |
| A/F | 0.4159 | ambiguous | 0.4796 | ambiguous | -0.766 | Destabilizing | 0.037 | N | 0.311 | neutral | None | None | None | None | I |
| A/G | 0.1351 | likely_benign | 0.1872 | benign | -1.118 | Destabilizing | 0.005 | N | 0.099 | neutral | N | 0.435474282 | None | None | I |
| A/H | 0.563 | ambiguous | 0.6318 | pathogenic | -1.34 | Destabilizing | 0.998 | D | 0.377 | neutral | None | None | None | None | I |
| A/I | 0.3955 | ambiguous | 0.475 | ambiguous | -0.074 | Destabilizing | 0.949 | D | 0.344 | neutral | None | None | None | None | I |
| A/K | 0.4721 | ambiguous | 0.5727 | pathogenic | -1.194 | Destabilizing | 0.842 | D | 0.353 | neutral | None | None | None | None | I |
| A/L | 0.2629 | likely_benign | 0.2898 | benign | -0.074 | Destabilizing | 0.728 | D | 0.339 | neutral | None | None | None | None | I |
| A/M | 0.3099 | likely_benign | 0.357 | ambiguous | -0.035 | Destabilizing | 0.991 | D | 0.315 | neutral | None | None | None | None | I |
| A/N | 0.3078 | likely_benign | 0.3848 | ambiguous | -1.03 | Destabilizing | 0.842 | D | 0.365 | neutral | None | None | None | None | I |
| A/P | 0.9246 | likely_pathogenic | 0.9535 | pathogenic | -0.275 | Destabilizing | 0.012 | N | 0.208 | neutral | D | 0.52722965 | None | None | I |
| A/Q | 0.3652 | ambiguous | 0.4048 | ambiguous | -1.081 | Destabilizing | 0.974 | D | 0.341 | neutral | None | None | None | None | I |
| A/R | 0.407 | ambiguous | 0.4804 | ambiguous | -0.931 | Destabilizing | 0.949 | D | 0.332 | neutral | None | None | None | None | I |
| A/S | 0.0971 | likely_benign | 0.1136 | benign | -1.361 | Destabilizing | 0.022 | N | 0.101 | neutral | N | 0.408266251 | None | None | I |
| A/T | 0.1206 | likely_benign | 0.1606 | benign | -1.22 | Destabilizing | 0.051 | N | 0.188 | neutral | N | 0.431777829 | None | None | I |
| A/V | 0.212 | likely_benign | 0.2534 | benign | -0.275 | Destabilizing | 0.801 | D | 0.283 | neutral | N | 0.456945632 | None | None | I |
| A/W | 0.792 | likely_pathogenic | 0.8406 | pathogenic | -1.278 | Destabilizing | 0.998 | D | 0.457 | neutral | None | None | None | None | I |
| A/Y | 0.5527 | ambiguous | 0.6394 | pathogenic | -0.787 | Destabilizing | 0.904 | D | 0.406 | 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.