Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18000 | 54223;54224;54225 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| N2AB | 16359 | 49300;49301;49302 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| N2A | 15432 | 46519;46520;46521 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| N2B | 8935 | 27028;27029;27030 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| Novex-1 | 9060 | 27403;27404;27405 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| Novex-2 | 9127 | 27604;27605;27606 | chr2:178605179;178605178;178605177 | chr2:179469906;179469905;179469904 |
| 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/C | rs72646813  |
-1.622 | 1.0 | D | 0.831 | 0.915 | 0.671431388003 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 1.16387E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs72646813 |
-1.622 | 1.0 | D | 0.831 | 0.915 | 0.671431388003 | gnomAD-4.0.0 | 7.97107E-06 | None | None | None | None | N | None | 0 | 1.14542E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/C | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.690528561 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.934 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/F | 0.6306 | likely_pathogenic | 0.6617 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/G | 0.9908 | likely_pathogenic | 0.9929 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.690326757 | None | None | N |
| W/H | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/I | 0.9682 | likely_pathogenic | 0.9739 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/L | 0.9597 | likely_pathogenic | 0.9674 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.664788645 | None | None | N |
| W/M | 0.99 | likely_pathogenic | 0.9924 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.803 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.690528561 | None | None | N |
| W/S | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -3.251 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.690528561 | None | None | N |
| W/T | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9838 | likely_pathogenic | 0.9866 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/Y | 0.9269 | likely_pathogenic | 0.9289 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.803 | 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.