Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5919 | 17980;17981;17982 | chr2:178730778;178730777;178730776 | chr2:179595505;179595504;179595503 |
| N2AB | 5602 | 17029;17030;17031 | chr2:178730778;178730777;178730776 | chr2:179595505;179595504;179595503 |
| N2A | 4675 | 14248;14249;14250 | chr2:178730778;178730777;178730776 | chr2:179595505;179595504;179595503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs780414866  |
-1.353 | 1.0 | D | 0.821 | 0.766 | 0.669649519912 | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 8.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs780414866 |
-1.353 | 1.0 | D | 0.821 | 0.766 | 0.669649519912 | gnomAD-4.0.0 | 4.86145E-06 | None | None | None | None | N | None | 0 | 6.96153E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1275881697 |
None | 1.0 | D | 0.886 | 0.755 | 0.90829014345 | gnomAD-4.0.0 | 3.24051E-06 | None | None | None | None | N | None | 1.1542E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs780414866 |
-1.648 | 1.0 | D | 0.885 | 0.78 | 0.67526397899 | gnomAD-2.1.1 | 8.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.88E-05 | None | 0 | 0 | 0 |
| P/S | rs780414866 |
-1.648 | 1.0 | D | 0.885 | 0.78 | 0.67526397899 | gnomAD-4.0.0 | 3.24097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.92406E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9288 | likely_pathogenic | 0.9401 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.619566641 | None | None | N |
| P/C | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/E | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/G | 0.9965 | likely_pathogenic | 0.9976 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/H | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.65244294 | None | None | N |
| P/I | 0.9954 | likely_pathogenic | 0.9932 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/L | 0.9839 | likely_pathogenic | 0.9821 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.636221775 | None | None | N |
| P/M | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.9981 | likely_pathogenic | 0.9988 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/R | 0.9966 | likely_pathogenic | 0.998 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.65244294 | None | None | N |
| P/S | 0.9934 | likely_pathogenic | 0.9951 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.62650122 | None | None | N |
| P/T | 0.9917 | likely_pathogenic | 0.9929 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.652241136 | None | None | N |
| P/V | 0.9826 | likely_pathogenic | 0.9761 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.89 | deleterious | 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.