Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26761 | 80506;80507;80508 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| N2AB | 25120 | 75583;75584;75585 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| N2A | 24193 | 72802;72803;72804 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| N2B | 17696 | 53311;53312;53313 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| Novex-1 | 17821 | 53686;53687;53688 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| Novex-2 | 17888 | 53887;53888;53889 | chr2:178565851;178565850;178565849 | chr2:179430578;179430577;179430576 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/T | rs1187490566  |
-0.586 | 0.999 | N | 0.733 | 0.659 | 0.458554320643 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs1187490566 |
-0.586 | 0.999 | N | 0.733 | 0.659 | 0.458554320643 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | N | None | 5.66059E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.846 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| N/C | 0.9888 | likely_pathogenic | 0.9887 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| N/D | 0.9879 | likely_pathogenic | 0.9886 | pathogenic | -2.362 | Highly Destabilizing | 0.998 | D | 0.619 | neutral | D | 0.537502971 | None | None | N |
| N/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| N/G | 0.9948 | likely_pathogenic | 0.9943 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| N/H | 0.9949 | likely_pathogenic | 0.9954 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.562154592 | None | None | N |
| N/I | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.562408082 | None | None | N |
| N/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.561140634 | None | None | N |
| N/L | 0.9935 | likely_pathogenic | 0.9927 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| N/M | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/Q | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/R | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/S | 0.9551 | likely_pathogenic | 0.9558 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.532868162 | None | None | N |
| N/T | 0.9824 | likely_pathogenic | 0.9813 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.507456071 | None | None | N |
| N/V | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/Y | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.562154592 | 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.