Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2847 | 8764;8765;8766 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| N2AB | 2847 | 8764;8765;8766 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| N2A | 2847 | 8764;8765;8766 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| N2B | 2801 | 8626;8627;8628 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| Novex-1 | 2801 | 8626;8627;8628 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| Novex-2 | 2801 | 8626;8627;8628 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
| Novex-3 | 2847 | 8764;8765;8766 | chr2:178770162;178770161;178770160 | chr2:179634889;179634888;179634887 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs794729582  |
-0.117 | 0.996 | N | 0.641 | 0.441 | 0.477219869099 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs794729582 |
-0.117 | 0.996 | N | 0.641 | 0.441 | 0.477219869099 | gnomAD-4.0.0 | 2.73624E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 2.69788E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.969 | likely_pathogenic | 0.9708 | pathogenic | -0.64 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| K/C | 0.978 | likely_pathogenic | 0.9817 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/D | 0.9893 | likely_pathogenic | 0.9879 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/E | 0.9617 | likely_pathogenic | 0.9702 | pathogenic | -0.042 | Destabilizing | 0.996 | D | 0.641 | neutral | N | 0.503896204 | None | None | N |
| K/F | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/G | 0.9583 | likely_pathogenic | 0.9351 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| K/H | 0.8628 | likely_pathogenic | 0.8617 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/I | 0.978 | likely_pathogenic | 0.9833 | pathogenic | 0.377 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.602777295 | None | None | N |
| K/L | 0.9368 | likely_pathogenic | 0.9472 | pathogenic | 0.377 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| K/M | 0.8692 | likely_pathogenic | 0.9002 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/N | 0.9637 | likely_pathogenic | 0.9645 | pathogenic | -0.598 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.508332558 | None | None | N |
| K/P | 0.991 | likely_pathogenic | 0.989 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Q | 0.792 | likely_pathogenic | 0.8302 | pathogenic | -0.644 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.573545 | None | None | N |
| K/R | 0.1956 | likely_benign | 0.2073 | benign | -0.699 | Destabilizing | 0.64 | D | 0.261 | neutral | N | 0.491818601 | None | None | N |
| K/S | 0.9816 | likely_pathogenic | 0.9806 | pathogenic | -1.286 | Destabilizing | 0.998 | D | 0.67 | neutral | None | None | None | None | N |
| K/T | 0.9155 | likely_pathogenic | 0.9405 | pathogenic | -0.943 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.512302271 | None | None | N |
| K/V | 0.963 | likely_pathogenic | 0.9728 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/W | 0.9894 | likely_pathogenic | 0.9892 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9771 | likely_pathogenic | 0.9761 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.687 | prob.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.