Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9363 | 28312;28313;28314 | chr2:178711149;178711148;178711147 | chr2:179575876;179575875;179575874 |
| N2AB | 9046 | 27361;27362;27363 | chr2:178711149;178711148;178711147 | chr2:179575876;179575875;179575874 |
| N2A | 8119 | 24580;24581;24582 | chr2:178711149;178711148;178711147 | chr2:179575876;179575875;179575874 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1430247866  |
None | 0.988 | None | 0.6 | 0.303 | 0.463672176093 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | rs1430247866 |
None | 0.988 | None | 0.6 | 0.303 | 0.463672176093 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/N | rs1430247866 |
-2.03 | 0.959 | None | 0.551 | 0.443 | 0.550503487074 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41026E-04 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs1430247866 |
-2.03 | 0.959 | None | 0.551 | 0.443 | 0.550503487074 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1430247866 |
-2.03 | 0.959 | None | 0.551 | 0.443 | 0.550503487074 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92308E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1325 | likely_benign | 0.1335 | benign | -1.287 | Destabilizing | 0.061 | N | 0.196 | neutral | None | None | None | None | N |
| T/C | 0.7797 | likely_pathogenic | 0.7709 | pathogenic | -1.033 | Destabilizing | 0.999 | D | 0.553 | neutral | None | None | None | None | N |
| T/D | 0.9374 | likely_pathogenic | 0.9572 | pathogenic | -1.404 | Destabilizing | 0.969 | D | 0.557 | neutral | None | None | None | None | N |
| T/E | 0.9102 | likely_pathogenic | 0.938 | pathogenic | -1.24 | Destabilizing | 0.969 | D | 0.555 | neutral | None | None | None | None | N |
| T/F | 0.9265 | likely_pathogenic | 0.9423 | pathogenic | -0.991 | Destabilizing | 0.997 | D | 0.593 | neutral | None | None | None | None | N |
| T/G | 0.4513 | ambiguous | 0.482 | ambiguous | -1.672 | Destabilizing | 0.007 | N | 0.314 | neutral | None | None | None | None | N |
| T/H | 0.932 | likely_pathogenic | 0.9414 | pathogenic | -1.755 | Destabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | N |
| T/I | 0.6563 | likely_pathogenic | 0.6878 | pathogenic | -0.287 | Destabilizing | 0.988 | D | 0.6 | neutral | None | None | None | None | N |
| T/K | 0.8982 | likely_pathogenic | 0.9293 | pathogenic | -0.748 | Destabilizing | 0.969 | D | 0.557 | neutral | None | None | None | None | N |
| T/L | 0.4231 | ambiguous | 0.4777 | ambiguous | -0.287 | Destabilizing | 0.939 | D | 0.525 | neutral | None | None | None | None | N |
| T/M | 0.2547 | likely_benign | 0.2508 | benign | -0.218 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| T/N | 0.5393 | ambiguous | 0.6173 | pathogenic | -1.301 | Destabilizing | 0.959 | D | 0.551 | neutral | None | None | None | None | N |
| T/P | 0.5191 | ambiguous | 0.5806 | pathogenic | -0.589 | Destabilizing | 0.988 | D | 0.599 | neutral | None | None | None | None | N |
| T/Q | 0.8765 | likely_pathogenic | 0.904 | pathogenic | -1.193 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | N |
| T/R | 0.8674 | likely_pathogenic | 0.8977 | pathogenic | -0.819 | Destabilizing | 0.991 | D | 0.607 | neutral | None | None | None | None | N |
| T/S | 0.3023 | likely_benign | 0.3084 | benign | -1.565 | Destabilizing | 0.704 | D | 0.467 | neutral | None | None | None | None | N |
| T/V | 0.4139 | ambiguous | 0.4448 | ambiguous | -0.589 | Destabilizing | 0.939 | D | 0.486 | neutral | None | None | None | None | N |
| T/W | 0.9868 | likely_pathogenic | 0.9887 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.551 | neutral | None | None | None | None | N |
| T/Y | 0.9368 | likely_pathogenic | 0.9478 | pathogenic | -0.715 | Destabilizing | 0.997 | D | 0.593 | 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.