Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9956 | 30091;30092;30093 | chr2:178704606;178704605;178704604 | chr2:179569333;179569332;179569331 |
| N2AB | 9639 | 29140;29141;29142 | chr2:178704606;178704605;178704604 | chr2:179569333;179569332;179569331 |
| N2A | 8712 | 26359;26360;26361 | chr2:178704606;178704605;178704604 | chr2:179569333;179569332;179569331 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | None | None | 1.0 | None | 0.758 | 0.328 | 0.198526703765 | gnomAD-4.0.0 | 6.84609E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs1255328557  |
-1.52 | 1.0 | None | 0.723 | 0.537 | 0.198526703765 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| H/R | rs1255328557 |
-1.52 | 1.0 | None | 0.723 | 0.537 | 0.198526703765 | gnomAD-4.0.0 | 3.42306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5582E-05 | None | 0 | 0 | 8.99841E-07 | 0 | 1.65728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.989 | likely_pathogenic | 0.9823 | pathogenic | -1.909 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| H/C | 0.8386 | likely_pathogenic | 0.8077 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| H/D | 0.994 | likely_pathogenic | 0.9857 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| H/E | 0.9933 | likely_pathogenic | 0.9864 | pathogenic | -1.851 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| H/F | 0.9206 | likely_pathogenic | 0.9123 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| H/G | 0.9944 | likely_pathogenic | 0.9892 | pathogenic | -2.361 | Highly Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| H/I | 0.9758 | likely_pathogenic | 0.96 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| H/K | 0.983 | likely_pathogenic | 0.9728 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| H/L | 0.8786 | likely_pathogenic | 0.8195 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| H/M | 0.9791 | likely_pathogenic | 0.9693 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| H/N | 0.9044 | likely_pathogenic | 0.8583 | pathogenic | -2.169 | Highly Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| H/P | 0.9943 | likely_pathogenic | 0.9826 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| H/Q | 0.9654 | likely_pathogenic | 0.9469 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| H/R | 0.9576 | likely_pathogenic | 0.9289 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| H/S | 0.9825 | likely_pathogenic | 0.9718 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| H/T | 0.9902 | likely_pathogenic | 0.9827 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| H/V | 0.9682 | likely_pathogenic | 0.9516 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| H/W | 0.9411 | likely_pathogenic | 0.9317 | pathogenic | 0.691 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| H/Y | 0.7184 | likely_pathogenic | 0.6719 | pathogenic | 0.45 | Stabilizing | 0.999 | D | 0.65 | neutral | 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.