Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32100 | 96523;96524;96525 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| N2AB | 30459 | 91600;91601;91602 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| N2A | 29532 | 88819;88820;88821 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| N2B | 23035 | 69328;69329;69330 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| Novex-1 | 23160 | 69703;69704;69705 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| Novex-2 | 23227 | 69904;69905;69906 | chr2:178543846;178543845;178543844 | chr2:179408573;179408572;179408571 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs794729541  |
-2.149 | 0.999 | D | 0.637 | 0.474 | 0.69736793855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/A | rs794729541 |
-2.149 | 0.999 | D | 0.637 | 0.474 | 0.69736793855 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs794729541 |
-2.149 | 0.999 | D | 0.637 | 0.474 | 0.69736793855 | gnomAD-4.0.0 | 1.0536E-05 | None | None | None | None | N | None | 0 | 1.66683E-05 | None | 0 | 0 | None | 0 | 0 | 1.35632E-05 | 0 | 0 |
| V/F | rs747553663 |
-1.393 | 1.0 | D | 0.834 | 0.443 | 0.76936249859 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/F | rs747553663 |
-1.393 | 1.0 | D | 0.834 | 0.443 | 0.76936249859 | gnomAD-4.0.0 | 6.84323E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 0 | 0 |
| V/L | None | None | 0.997 | N | 0.657 | 0.345 | 0.474954162714 | gnomAD-4.0.0 | 6.84323E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9227 | likely_pathogenic | 0.9297 | pathogenic | -1.999 | Destabilizing | 0.999 | D | 0.637 | neutral | D | 0.540397854 | None | None | N |
| V/C | 0.9599 | likely_pathogenic | 0.9634 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.631 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.540904833 | None | None | N |
| V/E | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -2.382 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/F | 0.9254 | likely_pathogenic | 0.927 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.52828108 | None | None | N |
| V/G | 0.9627 | likely_pathogenic | 0.9656 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.540904833 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/I | 0.1461 | likely_benign | 0.1555 | benign | -0.381 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.472394472 | None | None | N |
| V/K | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/L | 0.728 | likely_pathogenic | 0.7469 | pathogenic | -0.381 | Destabilizing | 0.997 | D | 0.657 | neutral | N | 0.478068534 | None | None | N |
| V/M | 0.8633 | likely_pathogenic | 0.8766 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/N | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/P | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/R | 0.9956 | likely_pathogenic | 0.9948 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/S | 0.9858 | likely_pathogenic | 0.9862 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/T | 0.9402 | likely_pathogenic | 0.9442 | pathogenic | -2.33 | Highly Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| V/W | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Y | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -1.318 | 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.