Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18905 | 56938;56939;56940 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| N2AB | 17264 | 52015;52016;52017 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| N2A | 16337 | 49234;49235;49236 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| N2B | 9840 | 29743;29744;29745 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| Novex-1 | 9965 | 30118;30119;30120 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| Novex-2 | 10032 | 30319;30320;30321 | chr2:178598997;178598996;178598995 | chr2:179463724;179463723;179463722 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1488040834  |
-2.048 | 1.0 | D | 0.893 | 0.772 | 0.930856625603 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.11E-06 | 0 |
| W/R | rs1488040834 |
-2.048 | 1.0 | D | 0.893 | 0.772 | 0.930856625603 | gnomAD-4.0.0 | 3.19706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73819E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -3.316 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/C | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.668114029 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.813 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.689 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/F | 0.847 | likely_pathogenic | 0.8061 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/G | 0.9922 | likely_pathogenic | 0.9909 | pathogenic | -3.573 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.668114029 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -2.739 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/I | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/L | 0.9945 | likely_pathogenic | 0.9919 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.651085647 | None | None | N |
| W/M | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.76 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.688 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.538 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.772 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.668114029 | None | None | N |
| W/S | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -3.876 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.668114029 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -3.672 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/V | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -2.688 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Y | 0.9792 | likely_pathogenic | 0.9726 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.782 | 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.