Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32177 | 96754;96755;96756 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| N2AB | 30536 | 91831;91832;91833 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| N2A | 29609 | 89050;89051;89052 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| N2B | 23112 | 69559;69560;69561 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| Novex-1 | 23237 | 69934;69935;69936 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| Novex-2 | 23304 | 70135;70136;70137 | chr2:178543444;178543443;178543442 | chr2:179408171;179408170;179408169 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1283604141  |
-1.358 | 1.0 | N | 0.693 | 0.513 | 0.660851695494 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs1283604141 |
-1.358 | 1.0 | N | 0.693 | 0.513 | 0.660851695494 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| F/C | 0.9766 | likely_pathogenic | 0.9714 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.539402302 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.633 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/G | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/H | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/I | 0.9025 | likely_pathogenic | 0.8915 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.494489923 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.402 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/L | 0.9848 | likely_pathogenic | 0.9796 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.485717739 | None | None | N |
| F/M | 0.971 | likely_pathogenic | 0.9665 | pathogenic | -0.82 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| F/N | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/S | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -3.49 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.539402302 | None | None | N |
| F/T | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -3.129 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/V | 0.9119 | likely_pathogenic | 0.9034 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.478508355 | None | None | N |
| F/W | 0.9648 | likely_pathogenic | 0.9608 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/Y | 0.8031 | likely_pathogenic | 0.789 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.6 | neutral | N | 0.502090928 | 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.