Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28541 | 85846;85847;85848 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| N2AB | 26900 | 80923;80924;80925 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| N2A | 25973 | 78142;78143;78144 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| N2B | 19476 | 58651;58652;58653 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| Novex-1 | 19601 | 59026;59027;59028 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| Novex-2 | 19668 | 59227;59228;59229 | chr2:178560511;178560510;178560509 | chr2:179425238;179425237;179425236 |
| 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/P | rs1342382839  |
-0.2 | 0.001 | N | 0.4 | 0.214 | 0.272639205421 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1342382839 |
-0.2 | 0.001 | N | 0.4 | 0.214 | 0.272639205421 | gnomAD-4.0.0 | 1.59348E-06 | None | None | None | None | N | None | 0 | 2.28927E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4389 | ambiguous | 0.4365 | ambiguous | -0.758 | Destabilizing | 0.996 | D | 0.642 | neutral | None | None | None | None | N |
| A/D | 0.3546 | ambiguous | 0.3983 | ambiguous | -0.499 | Destabilizing | 0.938 | D | 0.709 | prob.delet. | N | 0.483024124 | None | None | N |
| A/E | 0.2413 | likely_benign | 0.2784 | benign | -0.598 | Destabilizing | 0.74 | D | 0.685 | prob.delet. | None | None | None | None | N |
| A/F | 0.4334 | ambiguous | 0.4369 | ambiguous | -0.739 | Destabilizing | 0.984 | D | 0.811 | deleterious | None | None | None | None | N |
| A/G | 0.1658 | likely_benign | 0.1767 | benign | -0.58 | Destabilizing | 0.682 | D | 0.503 | neutral | N | 0.471503234 | None | None | N |
| A/H | 0.508 | ambiguous | 0.5472 | ambiguous | -0.555 | Destabilizing | 0.996 | D | 0.783 | deleterious | None | None | None | None | N |
| A/I | 0.2613 | likely_benign | 0.2734 | benign | -0.235 | Destabilizing | 0.953 | D | 0.716 | prob.delet. | None | None | None | None | N |
| A/K | 0.4394 | ambiguous | 0.4797 | ambiguous | -0.856 | Destabilizing | 0.74 | D | 0.697 | prob.delet. | None | None | None | None | N |
| A/L | 0.2011 | likely_benign | 0.2115 | benign | -0.235 | Destabilizing | 0.74 | D | 0.694 | prob.delet. | None | None | None | None | N |
| A/M | 0.2774 | likely_benign | 0.285 | benign | -0.35 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/N | 0.2943 | likely_benign | 0.325 | benign | -0.581 | Destabilizing | 0.953 | D | 0.803 | deleterious | None | None | None | None | N |
| A/P | 0.074 | likely_benign | 0.0733 | benign | -0.263 | Destabilizing | 0.001 | N | 0.4 | neutral | N | 0.367771131 | None | None | N |
| A/Q | 0.3358 | likely_benign | 0.3725 | ambiguous | -0.787 | Destabilizing | 0.953 | D | 0.74 | deleterious | None | None | None | None | N |
| A/R | 0.4051 | ambiguous | 0.4357 | ambiguous | -0.416 | Destabilizing | 0.953 | D | 0.727 | deleterious | None | None | None | None | N |
| A/S | 0.1034 | likely_benign | 0.1078 | benign | -0.853 | Destabilizing | 0.682 | D | 0.542 | neutral | N | 0.488769183 | None | None | N |
| A/T | 0.1116 | likely_benign | 0.1142 | benign | -0.861 | Destabilizing | 0.682 | D | 0.595 | neutral | N | 0.490673338 | None | None | N |
| A/V | 0.1383 | likely_benign | 0.1431 | benign | -0.263 | Destabilizing | 0.813 | D | 0.545 | neutral | N | 0.503314561 | None | None | N |
| A/W | 0.7661 | likely_pathogenic | 0.779 | pathogenic | -0.966 | Destabilizing | 0.996 | D | 0.791 | deleterious | None | None | None | None | N |
| A/Y | 0.5259 | ambiguous | 0.5414 | ambiguous | -0.593 | Destabilizing | 0.984 | D | 0.811 | deleterious | 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.