Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21888 | 65887;65888;65889 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| N2AB | 20247 | 60964;60965;60966 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| N2A | 19320 | 58183;58184;58185 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| N2B | 12823 | 38692;38693;38694 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| Novex-1 | 12948 | 39067;39068;39069 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| Novex-2 | 13015 | 39268;39269;39270 | chr2:178583141;178583140;178583139 | chr2:179447868;179447867;179447866 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1230631157  |
-0.499 | 0.007 | N | 0.132 | 0.276 | 0.235664433957 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| F/L | rs1230631157 |
-0.499 | 0.007 | N | 0.132 | 0.276 | 0.235664433957 | gnomAD-4.0.0 | 6.16279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09932E-06 | 0 | 0 |
| F/V | None | None | 0.521 | N | 0.389 | 0.38 | 0.61789491966 | gnomAD-4.0.0 | 6.84754E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.4931 | ambiguous | 0.3925 | ambiguous | -0.724 | Destabilizing | 0.59 | D | 0.417 | neutral | None | None | None | None | N |
| F/C | 0.441 | ambiguous | 0.3291 | benign | -0.365 | Destabilizing | 0.994 | D | 0.365 | neutral | D | 0.53113396 | None | None | N |
| F/D | 0.8027 | likely_pathogenic | 0.7227 | pathogenic | 0.612 | Stabilizing | 0.91 | D | 0.4 | neutral | None | None | None | None | N |
| F/E | 0.8109 | likely_pathogenic | 0.7478 | pathogenic | 0.578 | Stabilizing | 0.91 | D | 0.392 | neutral | None | None | None | None | N |
| F/G | 0.7769 | likely_pathogenic | 0.6904 | pathogenic | -0.869 | Destabilizing | 0.91 | D | 0.384 | neutral | None | None | None | None | N |
| F/H | 0.4958 | ambiguous | 0.4257 | ambiguous | 0.346 | Stabilizing | 0.91 | D | 0.349 | neutral | None | None | None | None | N |
| F/I | 0.3501 | ambiguous | 0.2733 | benign | -0.378 | Destabilizing | 0.521 | D | 0.311 | neutral | N | 0.486553676 | None | None | N |
| F/K | 0.8086 | likely_pathogenic | 0.7398 | pathogenic | -0.074 | Destabilizing | 0.91 | D | 0.389 | neutral | None | None | None | None | N |
| F/L | 0.8693 | likely_pathogenic | 0.814 | pathogenic | -0.378 | Destabilizing | 0.007 | N | 0.132 | neutral | N | 0.457886995 | None | None | N |
| F/M | 0.6022 | likely_pathogenic | 0.5262 | ambiguous | -0.448 | Destabilizing | 0.91 | D | 0.347 | neutral | None | None | None | None | N |
| F/N | 0.6536 | likely_pathogenic | 0.5394 | ambiguous | -0.118 | Destabilizing | 0.91 | D | 0.402 | neutral | None | None | None | None | N |
| F/P | 0.9939 | likely_pathogenic | 0.9924 | pathogenic | -0.475 | Destabilizing | 0.953 | D | 0.378 | neutral | None | None | None | None | N |
| F/Q | 0.7171 | likely_pathogenic | 0.635 | pathogenic | -0.14 | Destabilizing | 0.953 | D | 0.377 | neutral | None | None | None | None | N |
| F/R | 0.6759 | likely_pathogenic | 0.6024 | pathogenic | 0.287 | Stabilizing | 0.91 | D | 0.393 | neutral | None | None | None | None | N |
| F/S | 0.3299 | likely_benign | 0.2423 | benign | -0.677 | Destabilizing | 0.521 | D | 0.399 | neutral | N | 0.427350657 | None | None | N |
| F/T | 0.3899 | ambiguous | 0.2947 | benign | -0.625 | Destabilizing | 0.009 | N | 0.297 | neutral | None | None | None | None | N |
| F/V | 0.3241 | likely_benign | 0.25 | benign | -0.475 | Destabilizing | 0.521 | D | 0.389 | neutral | N | 0.458521713 | None | None | N |
| F/W | 0.4643 | ambiguous | 0.4409 | ambiguous | -0.351 | Destabilizing | 0.987 | D | 0.374 | neutral | None | None | None | None | N |
| F/Y | 0.1534 | likely_benign | 0.1344 | benign | -0.305 | Destabilizing | 0.003 | N | 0.124 | neutral | N | 0.507891741 | 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.