Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24243 | 72952;72953;72954 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| N2AB | 22602 | 68029;68030;68031 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| N2A | 21675 | 65248;65249;65250 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| N2B | 15178 | 45757;45758;45759 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| Novex-1 | 15303 | 46132;46133;46134 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| Novex-2 | 15370 | 46333;46334;46335 | chr2:178573405;178573404;178573403 | chr2:179438132;179438131;179438130 |
| 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 | None | None | 1.0 | D | 0.913 | 0.862 | 0.932455764754 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 1.3125E-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 | 0.9933 | likely_pathogenic | 0.9918 | pathogenic | -3.541 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/C | 0.9961 | likely_pathogenic | 0.9944 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.689241012 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -4.029 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.926 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/F | 0.6158 | likely_pathogenic | 0.6439 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/G | 0.9741 | likely_pathogenic | 0.9703 | pathogenic | -3.753 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.689241012 | None | None | N |
| W/H | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/I | 0.992 | likely_pathogenic | 0.9906 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.086 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/L | 0.9776 | likely_pathogenic | 0.9737 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.688231991 | None | None | N |
| W/M | 0.9951 | likely_pathogenic | 0.9942 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.786 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.638 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.754 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.689241012 | None | None | N |
| W/S | 0.9916 | likely_pathogenic | 0.9891 | pathogenic | -3.829 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.673221651 | None | None | N |
| W/T | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -3.657 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/V | 0.9901 | likely_pathogenic | 0.9884 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/Y | 0.938 | likely_pathogenic | 0.9371 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.828 | 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.