Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29271 | 88036;88037;88038 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| N2AB | 27630 | 83113;83114;83115 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| N2A | 26703 | 80332;80333;80334 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| N2B | 20206 | 60841;60842;60843 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| Novex-1 | 20331 | 61216;61217;61218 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| Novex-2 | 20398 | 61417;61418;61419 | chr2:178557451;178557450;178557449 | chr2:179422178;179422177;179422176 |
| 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/A | rs1201375858  |
-0.257 | 1.0 | N | 0.601 | 0.479 | 0.358744678677 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/A | rs1201375858 |
-0.257 | 1.0 | N | 0.601 | 0.479 | 0.358744678677 | gnomAD-4.0.0 | 3.1821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71566E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.881 | 0.55 | 0.615685111792 | gnomAD-4.0.0 | 6.84167E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| G/S | None | None | 1.0 | N | 0.664 | 0.435 | 0.3349148499 | gnomAD-4.0.0 | 6.84167E-07 | None | None | None | None | N | None | 0 | 2.23594E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.582 | likely_pathogenic | 0.5771 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.496962367 | None | None | N |
| G/C | 0.8458 | likely_pathogenic | 0.8921 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.5308307 | None | None | N |
| G/D | 0.9707 | likely_pathogenic | 0.9783 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.509395082 | None | None | N |
| G/E | 0.9854 | likely_pathogenic | 0.9858 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/F | 0.9891 | likely_pathogenic | 0.9913 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/H | 0.9862 | likely_pathogenic | 0.9911 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/I | 0.9894 | likely_pathogenic | 0.9895 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/K | 0.9935 | likely_pathogenic | 0.9944 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.985 | likely_pathogenic | 0.9889 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/M | 0.9899 | likely_pathogenic | 0.9918 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.9576 | likely_pathogenic | 0.975 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9799 | likely_pathogenic | 0.9841 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.9736 | likely_pathogenic | 0.9781 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.519648524 | None | None | N |
| G/S | 0.5697 | likely_pathogenic | 0.6266 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.47412117 | None | None | N |
| G/T | 0.9399 | likely_pathogenic | 0.9447 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/V | 0.9764 | likely_pathogenic | 0.9771 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.547667507 | None | None | N |
| G/W | 0.9804 | likely_pathogenic | 0.9851 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/Y | 0.9782 | likely_pathogenic | 0.9848 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.859 | 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.