Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20358 | 61297;61298;61299 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| N2AB | 18717 | 56374;56375;56376 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| N2A | 17790 | 53593;53594;53595 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| N2B | 11293 | 34102;34103;34104 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| Novex-1 | 11418 | 34477;34478;34479 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| Novex-2 | 11485 | 34678;34679;34680 | chr2:178590653;178590652;178590651 | chr2:179455380;179455379;179455378 |
| 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 | rs751194376  |
-0.124 | 1.0 | N | 0.791 | 0.259 | 0.594283004778 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| P/L | rs751194376 |
-0.124 | 1.0 | N | 0.791 | 0.259 | 0.594283004778 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs751194376 |
-0.124 | 1.0 | N | 0.791 | 0.259 | 0.594283004778 | gnomAD-4.0.0 | 5.5795E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29381E-04 | 5.08727E-06 | 0 | 1.60154E-05 |
| P/S | None | None | 1.0 | N | 0.819 | 0.309 | 0.249502417897 | gnomAD-4.0.0 | 1.59266E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88281E-05 | 0 | 0 | 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 | 0.0707 | likely_benign | 0.0776 | benign | -0.963 | Destabilizing | 0.999 | D | 0.792 | deleterious | N | 0.469607419 | None | None | I |
| P/C | 0.3864 | ambiguous | 0.4474 | ambiguous | -0.702 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| P/D | 0.3383 | likely_benign | 0.3305 | benign | -0.497 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| P/E | 0.1979 | likely_benign | 0.181 | benign | -0.59 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| P/F | 0.3288 | likely_benign | 0.3812 | ambiguous | -1.03 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| P/G | 0.283 | likely_benign | 0.32 | benign | -1.155 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| P/H | 0.1778 | likely_benign | 0.1899 | benign | -0.642 | Destabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | I |
| P/I | 0.1837 | likely_benign | 0.1998 | benign | -0.587 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| P/K | 0.25 | likely_benign | 0.2464 | benign | -0.636 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/L | 0.0886 | likely_benign | 0.1001 | benign | -0.587 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.458622422 | None | None | I |
| P/M | 0.2199 | likely_benign | 0.2478 | benign | -0.411 | Destabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | I |
| P/N | 0.2802 | likely_benign | 0.3065 | benign | -0.323 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| P/Q | 0.1341 | likely_benign | 0.1318 | benign | -0.608 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.48118985 | None | None | I |
| P/R | 0.1842 | likely_benign | 0.1862 | benign | -0.076 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.487366461 | None | None | I |
| P/S | 0.1163 | likely_benign | 0.1247 | benign | -0.794 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.482747288 | None | None | I |
| P/T | 0.1013 | likely_benign | 0.1073 | benign | -0.786 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.48361408 | None | None | I |
| P/V | 0.1253 | likely_benign | 0.1402 | benign | -0.676 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| P/W | 0.495 | ambiguous | 0.5824 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.671 | prob.neutral | None | None | None | None | I |
| P/Y | 0.3135 | likely_benign | 0.3484 | ambiguous | -0.785 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
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.