Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23347 | 70264;70265;70266 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| N2AB | 21706 | 65341;65342;65343 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| N2A | 20779 | 62560;62561;62562 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| N2B | 14282 | 43069;43070;43071 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| Novex-1 | 14407 | 43444;43445;43446 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| Novex-2 | 14474 | 43645;43646;43647 | chr2:178576093;178576092;178576091 | chr2:179440820;179440819;179440818 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1484649738  |
None | 0.955 | N | 0.653 | 0.584 | 0.424908009808 | 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 |
| D/G | rs1484649738 |
None | 0.955 | N | 0.653 | 0.584 | 0.424908009808 | gnomAD-4.0.0 | 6.57626E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47111E-05 | 0 | 0 |
| D/H | rs371752797 |
0.547 | 0.999 | N | 0.738 | 0.557 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.04E-05 | 1.40647E-04 |
| D/H | rs371752797 |
0.547 | 0.999 | N | 0.738 | 0.557 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| D/H | rs371752797 |
0.547 | 0.999 | N | 0.738 | 0.557 | None | gnomAD-4.0.0 | 6.13619E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.05352E-05 | 0 | 6.40533E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7495 | likely_pathogenic | 0.8093 | pathogenic | -0.301 | Destabilizing | 0.993 | D | 0.68 | prob.neutral | N | 0.500581034 | None | None | I |
| D/C | 0.9713 | likely_pathogenic | 0.9774 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| D/E | 0.789 | likely_pathogenic | 0.8397 | pathogenic | -0.345 | Destabilizing | 0.977 | D | 0.526 | neutral | N | 0.500074055 | None | None | I |
| D/F | 0.9787 | likely_pathogenic | 0.9818 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| D/G | 0.7107 | likely_pathogenic | 0.756 | pathogenic | -0.543 | Destabilizing | 0.955 | D | 0.653 | neutral | N | 0.520459716 | None | None | I |
| D/H | 0.9114 | likely_pathogenic | 0.9412 | pathogenic | 0.018 | Stabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.519952737 | None | None | I |
| D/I | 0.9738 | likely_pathogenic | 0.9807 | pathogenic | 0.301 | Stabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | I |
| D/K | 0.9718 | likely_pathogenic | 0.9789 | pathogenic | 0.111 | Stabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/L | 0.92 | likely_pathogenic | 0.9411 | pathogenic | 0.301 | Stabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | I |
| D/M | 0.9785 | likely_pathogenic | 0.9844 | pathogenic | 0.399 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| D/N | 0.6642 | likely_pathogenic | 0.7036 | pathogenic | -0.252 | Destabilizing | 0.235 | N | 0.386 | neutral | N | 0.519445758 | None | None | I |
| D/P | 0.8875 | likely_pathogenic | 0.918 | pathogenic | 0.124 | Stabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | I |
| D/Q | 0.9452 | likely_pathogenic | 0.9561 | pathogenic | -0.183 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/R | 0.9635 | likely_pathogenic | 0.9708 | pathogenic | 0.347 | Stabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | I |
| D/S | 0.6304 | likely_pathogenic | 0.6733 | pathogenic | -0.385 | Destabilizing | 0.966 | D | 0.623 | neutral | None | None | None | None | I |
| D/T | 0.881 | likely_pathogenic | 0.9093 | pathogenic | -0.195 | Destabilizing | 0.995 | D | 0.714 | prob.delet. | None | None | None | None | I |
| D/V | 0.9031 | likely_pathogenic | 0.9276 | pathogenic | 0.124 | Stabilizing | 0.997 | D | 0.756 | deleterious | N | 0.520713205 | None | None | I |
| D/W | 0.9949 | likely_pathogenic | 0.9955 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| D/Y | 0.8884 | likely_pathogenic | 0.8985 | pathogenic | 0.163 | Stabilizing | 1.0 | D | 0.765 | deleterious | N | 0.521220184 | 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.