Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19308 | 58147;58148;58149 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| N2AB | 17667 | 53224;53225;53226 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| N2A | 16740 | 50443;50444;50445 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| N2B | 10243 | 30952;30953;30954 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| Novex-1 | 10368 | 31327;31328;31329 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| Novex-2 | 10435 | 31528;31529;31530 | chr2:178594572;178594571;178594570 | chr2:179459299;179459298;179459297 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs745457069  |
-0.902 | 1.0 | D | 0.907 | 0.534 | 0.739637433589 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.20019E-04 | 7.83E-06 | 0 |
| P/L | rs745457069 |
-0.902 | 1.0 | D | 0.907 | 0.534 | 0.739637433589 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs745457069 |
-0.902 | 1.0 | D | 0.907 | 0.534 | 0.739637433589 | gnomAD-4.0.0 | 1.2822E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.27806E-05 | 0 | 1.43704E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9391 | likely_pathogenic | 0.9299 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.515666187 | None | None | N |
| P/C | 0.993 | likely_pathogenic | 0.9927 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/E | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.846 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/G | 0.9934 | likely_pathogenic | 0.9924 | pathogenic | -2.638 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.5347844 | None | None | N |
| P/I | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/L | 0.9923 | likely_pathogenic | 0.9875 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.544366279 | None | None | N |
| P/M | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Q | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/R | 0.9974 | likely_pathogenic | 0.9966 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.515109983 | None | None | N |
| P/S | 0.9904 | likely_pathogenic | 0.9884 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.501423046 | None | None | N |
| P/T | 0.9923 | likely_pathogenic | 0.9898 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.52480722 | None | None | N |
| P/V | 0.9913 | likely_pathogenic | 0.9895 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.909 | 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.