Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1625 | 5098;5099;5100 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| N2AB | 1625 | 5098;5099;5100 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| N2A | 1625 | 5098;5099;5100 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| N2B | 1579 | 4960;4961;4962 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| Novex-1 | 1579 | 4960;4961;4962 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| Novex-2 | 1579 | 4960;4961;4962 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
| Novex-3 | 1625 | 5098;5099;5100 | chr2:178776991;178776990;178776989 | chr2:179641718;179641717;179641716 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs185789611  |
-0.466 | 0.998 | D | 0.696 | 0.562 | None | gnomAD-2.1.1 | 3.91E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.53153E-04 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs185789611 |
-0.466 | 0.998 | D | 0.696 | 0.562 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.62279E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs185789611 |
-0.466 | 0.998 | D | 0.696 | 0.562 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/C | rs185789611 |
-0.466 | 0.998 | D | 0.696 | 0.562 | None | gnomAD-4.0.0 | 1.79674E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.24331E-04 | None | 0 | 0 | 0 | 0 | 1.59995E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.079 | likely_benign | 0.0741 | benign | -0.732 | Destabilizing | 0.02 | N | 0.196 | neutral | N | 0.47304655 | None | None | N |
| S/C | 0.2242 | likely_benign | 0.1784 | benign | -0.566 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | D | 0.591387745 | None | None | N |
| S/D | 0.8307 | likely_pathogenic | 0.72 | pathogenic | -0.636 | Destabilizing | 0.993 | D | 0.513 | neutral | None | None | None | None | N |
| S/E | 0.8536 | likely_pathogenic | 0.7603 | pathogenic | -0.664 | Destabilizing | 0.953 | D | 0.499 | neutral | None | None | None | None | N |
| S/F | 0.5753 | likely_pathogenic | 0.4797 | ambiguous | -1.052 | Destabilizing | 0.991 | D | 0.765 | deleterious | D | 0.60542845 | None | None | N |
| S/G | 0.1322 | likely_benign | 0.1162 | benign | -0.944 | Destabilizing | 0.807 | D | 0.511 | neutral | None | None | None | None | N |
| S/H | 0.7502 | likely_pathogenic | 0.6539 | pathogenic | -1.473 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/I | 0.5169 | ambiguous | 0.4142 | ambiguous | -0.28 | Destabilizing | 0.986 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/K | 0.928 | likely_pathogenic | 0.862 | pathogenic | -0.82 | Destabilizing | 0.953 | D | 0.489 | neutral | None | None | None | None | N |
| S/L | 0.2214 | likely_benign | 0.1839 | benign | -0.28 | Destabilizing | 0.953 | D | 0.597 | neutral | None | None | None | None | N |
| S/M | 0.3306 | likely_benign | 0.2798 | benign | 0.14 | Stabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/N | 0.3552 | ambiguous | 0.2699 | benign | -0.774 | Destabilizing | 0.993 | D | 0.547 | neutral | None | None | None | None | N |
| S/P | 0.9317 | likely_pathogenic | 0.8686 | pathogenic | -0.399 | Destabilizing | 0.991 | D | 0.705 | prob.neutral | D | 0.644759208 | None | None | N |
| S/Q | 0.7816 | likely_pathogenic | 0.6977 | pathogenic | -1.029 | Destabilizing | 0.993 | D | 0.586 | neutral | None | None | None | None | N |
| S/R | 0.8867 | likely_pathogenic | 0.8004 | pathogenic | -0.603 | Destabilizing | 0.993 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/T | 0.1175 | likely_benign | 0.1077 | benign | -0.782 | Destabilizing | 0.939 | D | 0.475 | neutral | N | 0.514207297 | None | None | N |
| S/V | 0.4211 | ambiguous | 0.3487 | ambiguous | -0.399 | Destabilizing | 0.91 | D | 0.605 | neutral | None | None | None | None | N |
| S/W | 0.8202 | likely_pathogenic | 0.7205 | pathogenic | -1.016 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| S/Y | 0.5654 | likely_pathogenic | 0.4432 | ambiguous | -0.755 | Destabilizing | 0.997 | D | 0.764 | deleterious | D | 0.60542845 | 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.