Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22184 | 66775;66776;66777 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| N2AB | 20543 | 61852;61853;61854 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| N2A | 19616 | 59071;59072;59073 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| N2B | 13119 | 39580;39581;39582 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| Novex-1 | 13244 | 39955;39956;39957 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| Novex-2 | 13311 | 40156;40157;40158 | chr2:178581718;178581717;178581716 | chr2:179446445;179446444;179446443 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1262240030  |
None | 1.0 | N | 0.797 | 0.464 | 0.365120060079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs1262240030 |
None | 1.0 | N | 0.797 | 0.464 | 0.365120060079 | gnomAD-4.0.0 | 2.48374E-06 | None | None | None | None | I | None | 1.33658E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9766 | likely_pathogenic | 0.9833 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.518262037 | None | None | I |
| G/C | 0.9931 | likely_pathogenic | 0.9962 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.537633739 | None | None | I |
| G/D | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.514868222 | None | None | I |
| G/E | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/I | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/L | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9973 | likely_pathogenic | 0.9983 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/Q | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9942 | likely_pathogenic | 0.9967 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.49356119 | None | None | I |
| G/S | 0.9687 | likely_pathogenic | 0.9798 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.508854288 | None | None | I |
| G/T | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/V | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.52585936 | None | None | I |
| G/W | 0.9978 | likely_pathogenic | 0.9987 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Y | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
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.