Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19312 | 58159;58160;58161 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| N2AB | 17671 | 53236;53237;53238 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| N2A | 16744 | 50455;50456;50457 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| N2B | 10247 | 30964;30965;30966 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| Novex-1 | 10372 | 31339;31340;31341 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| Novex-2 | 10439 | 31540;31541;31542 | chr2:178594560;178594559;178594558 | chr2:179459287;179459286;179459285 |
| 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 | rs1559625655  |
None | 1.0 | N | 0.822 | 0.471 | 0.423954403188 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs1559625655 |
None | 1.0 | N | 0.822 | 0.471 | 0.423954403188 | gnomAD-4.0.0 | 4.79102E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39814E-06 | 0 | 1.65728E-05 |
| G/R | rs753408795 |
-0.415 | 1.0 | N | 0.83 | 0.468 | 0.615566891949 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs753408795 |
-0.415 | 1.0 | N | 0.83 | 0.468 | 0.615566891949 | gnomAD-4.0.0 | 1.16354E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52949E-05 | 0 | 0 |
| G/S | rs753408795 |
-0.767 | 1.0 | N | 0.787 | 0.465 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs753408795 |
-0.767 | 1.0 | N | 0.787 | 0.465 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs753408795 |
-0.767 | 1.0 | N | 0.787 | 0.465 | None | gnomAD-4.0.0 | 3.71946E-06 | None | None | None | None | I | None | 8.01218E-05 | 0 | 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 | 0.9833 | likely_pathogenic | 0.9751 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.51287044 | None | None | I |
| G/C | 0.9967 | likely_pathogenic | 0.9939 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.525658777 | None | None | I |
| G/D | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.514476602 | None | None | I |
| G/E | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/F | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/N | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9978 | likely_pathogenic | 0.9957 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.506033585 | None | None | I |
| G/S | 0.9865 | likely_pathogenic | 0.9761 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.494486242 | None | None | I |
| G/T | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.507047543 | None | None | I |
| G/W | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Y | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.785 | 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.