Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14564 | 43915;43916;43917 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| N2AB | 12923 | 38992;38993;38994 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| N2A | 11996 | 36211;36212;36213 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| N2B | 5499 | 16720;16721;16722 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| Novex-1 | 5624 | 17095;17096;17097 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| Novex-2 | 5691 | 17296;17297;17298 | chr2:178632204;178632203;178632202 | chr2:179496931;179496930;179496929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs377015571  |
-0.534 | 1.0 | N | 0.829 | 0.507 | None | gnomAD-2.1.1 | 2.92E-05 | None | None | None | None | N | None | 6.84E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.54E-05 | 0 |
| S/C | rs377015571 |
-0.534 | 1.0 | N | 0.829 | 0.507 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/C | rs377015571 |
-0.534 | 1.0 | N | 0.829 | 0.507 | None | gnomAD-4.0.0 | 1.30542E-05 | None | None | None | None | N | None | 1.33618E-05 | 0 | None | 0 | 0 | None | 0 | 1.64962E-04 | 1.35896E-05 | 0 | 4.81928E-05 |
| S/T | rs181189778 |
-0.761 | 0.999 | D | 0.803 | 0.399 | None | gnomAD-2.1.1 | 2.95172E-04 | None | None | None | None | N | None | 8.58E-05 | 6.96621E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.04563E-04 | 5.75871E-04 |
| S/T | rs181189778 |
-0.761 | 0.999 | D | 0.803 | 0.399 | None | gnomAD-3.1.2 | 3.22229E-04 | None | None | None | None | N | None | 9.65E-05 | 1.18126E-03 | 0 | 0 | 0 | None | 0 | 0 | 3.38275E-04 | 0 | 1.91388E-03 |
| S/T | rs181189778 |
-0.761 | 0.999 | D | 0.803 | 0.399 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/T | rs181189778 |
-0.761 | 0.999 | D | 0.803 | 0.399 | None | gnomAD-4.0.0 | 3.53727E-04 | None | None | None | None | N | None | 9.33831E-05 | 1.02676E-03 | None | 0 | 0 | None | 1.56853E-05 | 0 | 4.0348E-04 | 0 | 4.0149E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1394 | likely_benign | 0.1316 | benign | -0.799 | Destabilizing | 0.997 | D | 0.758 | deleterious | N | 0.501358566 | None | None | N |
| S/C | 0.2809 | likely_benign | 0.2853 | benign | -0.811 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.488730299 | None | None | N |
| S/D | 0.9291 | likely_pathogenic | 0.8898 | pathogenic | -1.115 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| S/E | 0.9563 | likely_pathogenic | 0.9461 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| S/F | 0.7501 | likely_pathogenic | 0.7374 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.574569374 | None | None | N |
| S/G | 0.1957 | likely_benign | 0.1458 | benign | -1.102 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| S/H | 0.8966 | likely_pathogenic | 0.8932 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| S/I | 0.7988 | likely_pathogenic | 0.8104 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| S/K | 0.9897 | likely_pathogenic | 0.9887 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| S/L | 0.4631 | ambiguous | 0.487 | ambiguous | -0.081 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| S/M | 0.6858 | likely_pathogenic | 0.6907 | pathogenic | 0.098 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/N | 0.7061 | likely_pathogenic | 0.6626 | pathogenic | -1.048 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| S/P | 0.9754 | likely_pathogenic | 0.972 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.573545 | None | None | N |
| S/Q | 0.9472 | likely_pathogenic | 0.9452 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| S/R | 0.9748 | likely_pathogenic | 0.9724 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/T | 0.303 | likely_benign | 0.3071 | benign | -0.891 | Destabilizing | 0.999 | D | 0.803 | deleterious | D | 0.532257251 | None | None | N |
| S/V | 0.7248 | likely_pathogenic | 0.7289 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/W | 0.8911 | likely_pathogenic | 0.8865 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| S/Y | 0.7201 | likely_pathogenic | 0.7082 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.574569374 | 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.