Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16555 | 49888;49889;49890 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| N2AB | 14914 | 44965;44966;44967 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| N2A | 13987 | 42184;42185;42186 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| N2B | 7490 | 22693;22694;22695 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| Novex-1 | 7615 | 23068;23069;23070 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| Novex-2 | 7682 | 23269;23270;23271 | chr2:178613058;178613057;178613056 | chr2:179477785;179477784;179477783 |
| 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/R | rs2056634324  |
None | 0.999 | D | 0.883 | 0.754 | 0.802521860083 | gnomAD-4.0.0 | 1.23245E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61981E-05 | 0 | 0 |
| P/S | rs373572207 |
None | 0.79 | D | 0.689 | 0.713 | 0.597153157781 | gnomAD-4.0.0 | 6.84689E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99892E-07 | 0 | 0 |
| P/T | rs373572207 |
-2.492 | 0.995 | D | 0.787 | 0.729 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| P/T | rs373572207 |
-2.492 | 0.995 | D | 0.787 | 0.729 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| P/T | rs373572207 |
-2.492 | 0.995 | D | 0.787 | 0.729 | None | gnomAD-4.0.0 | 2.35667E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.13776E-05 | 0 | 1.60339E-05 |
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 | 0.7444 | likely_pathogenic | 0.8157 | pathogenic | -2.223 | Highly Destabilizing | 0.984 | D | 0.779 | deleterious | D | 0.676749854 | None | None | N |
| P/C | 0.977 | likely_pathogenic | 0.9845 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.425 | Highly Destabilizing | 0.998 | D | 0.818 | deleterious | None | None | None | None | N |
| P/E | 0.9975 | likely_pathogenic | 0.9987 | pathogenic | -3.25 | Highly Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| P/G | 0.9883 | likely_pathogenic | 0.9917 | pathogenic | -2.682 | Highly Destabilizing | 0.994 | D | 0.848 | deleterious | None | None | None | None | N |
| P/H | 0.997 | likely_pathogenic | 0.9985 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.805494159 | None | None | N |
| P/I | 0.9717 | likely_pathogenic | 0.9821 | pathogenic | -0.95 | Destabilizing | 0.999 | D | 0.909 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9993 | pathogenic | -1.884 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| P/L | 0.933 | likely_pathogenic | 0.9584 | pathogenic | -0.95 | Destabilizing | 0.998 | D | 0.908 | deleterious | D | 0.771598316 | None | None | N |
| P/M | 0.9908 | likely_pathogenic | 0.9945 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -2.29 | Highly Destabilizing | 0.998 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Q | 0.9954 | likely_pathogenic | 0.9977 | pathogenic | -2.238 | Highly Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| P/R | 0.994 | likely_pathogenic | 0.9969 | pathogenic | -1.579 | Destabilizing | 0.999 | D | 0.883 | deleterious | D | 0.805434161 | None | None | N |
| P/S | 0.9726 | likely_pathogenic | 0.9861 | pathogenic | -2.804 | Highly Destabilizing | 0.79 | D | 0.689 | prob.neutral | D | 0.69823745 | None | None | N |
| P/T | 0.9489 | likely_pathogenic | 0.9744 | pathogenic | -2.502 | Highly Destabilizing | 0.995 | D | 0.787 | deleterious | D | 0.734399544 | None | None | N |
| P/V | 0.9033 | likely_pathogenic | 0.9326 | pathogenic | -1.35 | Destabilizing | 0.998 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.934 | 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.