Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19368 | 58327;58328;58329 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| N2AB | 17727 | 53404;53405;53406 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| N2A | 16800 | 50623;50624;50625 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| N2B | 10303 | 31132;31133;31134 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| Novex-1 | 10428 | 31507;31508;31509 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| Novex-2 | 10495 | 31708;31709;31710 | chr2:178594392;178594391;178594390 | chr2:179459119;179459118;179459117 |
| 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/D | rs772445847  |
-2.075 | 1.0 | D | 0.838 | 0.574 | 0.525716358561 | gnomAD-4.0.0 | 1.61572E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90165E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8522 | likely_pathogenic | 0.8028 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.541233316 | None | None | I |
| G/C | 0.9785 | likely_pathogenic | 0.9701 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.553603579 | None | None | I |
| G/D | 0.9943 | likely_pathogenic | 0.9918 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.5530966 | None | None | I |
| G/E | 0.9963 | likely_pathogenic | 0.9951 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/F | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/H | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/L | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/N | 0.994 | likely_pathogenic | 0.9903 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Q | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/R | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.540726337 | None | None | I |
| G/S | 0.6181 | likely_pathogenic | 0.4956 | ambiguous | -1.242 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.467445054 | None | None | I |
| G/T | 0.9725 | likely_pathogenic | 0.9597 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/V | 0.9956 | likely_pathogenic | 0.9943 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.541740295 | None | None | I |
| G/W | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/Y | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
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.