Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17306 | 52141;52142;52143 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| N2AB | 15665 | 47218;47219;47220 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| N2A | 14738 | 44437;44438;44439 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| N2B | 8241 | 24946;24947;24948 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| Novex-1 | 8366 | 25321;25322;25323 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| Novex-2 | 8433 | 25522;25523;25524 | chr2:178609394;178609393;178609392 | chr2:179474121;179474120;179474119 |
| 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/D | rs1559758942  |
-0.486 | 0.001 | N | 0.421 | 0.078 | 0.239305524855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs1559758942 |
-0.486 | 0.001 | N | 0.421 | 0.078 | 0.239305524855 | gnomAD-4.0.0 | 3.18908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86367E-06 | 1.43427E-05 | 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 | 0.0879 | likely_benign | 0.0893 | benign | -0.542 | Destabilizing | 0.09 | N | 0.57 | neutral | N | 0.483681156 | None | None | N |
| G/C | 0.1983 | likely_benign | 0.2112 | benign | -1.143 | Destabilizing | 0.975 | D | 0.625 | neutral | N | 0.485934814 | None | None | N |
| G/D | 0.1088 | likely_benign | 0.1098 | benign | -0.792 | Destabilizing | 0.001 | N | 0.421 | neutral | N | 0.484547947 | None | None | N |
| G/E | 0.0958 | likely_benign | 0.1025 | benign | -0.924 | Destabilizing | 0.004 | N | 0.381 | neutral | None | None | None | None | N |
| G/F | 0.376 | ambiguous | 0.3876 | ambiguous | -1.218 | Destabilizing | 0.932 | D | 0.64 | neutral | None | None | None | None | N |
| G/H | 0.2607 | likely_benign | 0.2656 | benign | -0.497 | Destabilizing | 0.981 | D | 0.616 | neutral | None | None | None | None | N |
| G/I | 0.1415 | likely_benign | 0.1544 | benign | -0.786 | Destabilizing | 0.818 | D | 0.647 | neutral | None | None | None | None | N |
| G/K | 0.1935 | likely_benign | 0.1981 | benign | -0.872 | Destabilizing | 0.002 | N | 0.467 | neutral | None | None | None | None | N |
| G/L | 0.2227 | likely_benign | 0.2439 | benign | -0.786 | Destabilizing | 0.69 | D | 0.619 | neutral | None | None | None | None | N |
| G/M | 0.2426 | likely_benign | 0.2617 | benign | -0.991 | Destabilizing | 0.981 | D | 0.613 | neutral | None | None | None | None | N |
| G/N | 0.1465 | likely_benign | 0.1546 | benign | -0.578 | Destabilizing | 0.241 | N | 0.633 | neutral | None | None | None | None | N |
| G/P | 0.3072 | likely_benign | 0.324 | benign | -0.686 | Destabilizing | 0.818 | D | 0.612 | neutral | None | None | None | None | N |
| G/Q | 0.1879 | likely_benign | 0.2015 | benign | -0.808 | Destabilizing | 0.69 | D | 0.617 | neutral | None | None | None | None | N |
| G/R | 0.1926 | likely_benign | 0.1876 | benign | -0.478 | Destabilizing | 0.457 | N | 0.615 | neutral | N | 0.484721306 | None | None | N |
| G/S | 0.0914 | likely_benign | 0.0949 | benign | -0.748 | Destabilizing | 0.018 | N | 0.378 | neutral | N | 0.484201231 | None | None | N |
| G/T | 0.0849 | likely_benign | 0.0914 | benign | -0.824 | Destabilizing | 0.241 | N | 0.605 | neutral | None | None | None | None | N |
| G/V | 0.0975 | likely_benign | 0.1052 | benign | -0.686 | Destabilizing | 0.773 | D | 0.617 | neutral | N | 0.485068022 | None | None | N |
| G/W | 0.2657 | likely_benign | 0.27 | benign | -1.259 | Destabilizing | 0.981 | D | 0.638 | neutral | None | None | None | None | N |
| G/Y | 0.2657 | likely_benign | 0.2692 | benign | -1.026 | Destabilizing | 0.932 | D | 0.639 | 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.