Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 23577 | 70954;70955;70956 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
N2AB | 21936 | 66031;66032;66033 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
N2A | 21009 | 63250;63251;63252 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
N2B | 14512 | 43759;43760;43761 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
Novex-1 | 14637 | 44134;44135;44136 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
Novex-2 | 14704 | 44335;44336;44337 | chr2:178575403;178575402;178575401 | chr2:179440130;179440129;179440128 |
Novex-3 | None | None | chr2:None | chr2:None |
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/N | rs1343180009 | 0.581 | 0.003 | N | 0.314 | 0.118 | 0.258283824007 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
D/N | rs1343180009 | 0.581 | 0.003 | N | 0.314 | 0.118 | 0.258283824007 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 | 0.1262 | likely_benign | 0.1149 | benign | 0.093 | Stabilizing | 0.316 | N | 0.379 | neutral | N | 0.495564657 | None | None | N |
D/C | 0.5108 | ambiguous | 0.477 | ambiguous | -0.04 | Destabilizing | 0.986 | D | 0.445 | neutral | None | None | None | None | N |
D/E | 0.0922 | likely_benign | 0.0903 | benign | -0.34 | Destabilizing | 0.001 | N | 0.147 | neutral | N | 0.437380358 | None | None | N |
D/F | 0.4773 | ambiguous | 0.4381 | ambiguous | -0.109 | Destabilizing | 0.987 | D | 0.451 | neutral | None | None | None | None | N |
D/G | 0.1274 | likely_benign | 0.1131 | benign | 0.016 | Stabilizing | 0.447 | N | 0.434 | neutral | N | 0.469818063 | None | None | N |
D/H | 0.2128 | likely_benign | 0.1936 | benign | 0.464 | Stabilizing | 0.955 | D | 0.476 | neutral | N | 0.467988196 | None | None | N |
D/I | 0.2488 | likely_benign | 0.2262 | benign | 0.223 | Stabilizing | 0.974 | D | 0.445 | neutral | None | None | None | None | N |
D/K | 0.2109 | likely_benign | 0.2006 | benign | 0.469 | Stabilizing | 0.032 | N | 0.354 | neutral | None | None | None | None | N |
D/L | 0.2271 | likely_benign | 0.2031 | benign | 0.223 | Stabilizing | 0.842 | D | 0.415 | neutral | None | None | None | None | N |
D/M | 0.4019 | ambiguous | 0.3827 | ambiguous | 0.068 | Stabilizing | 0.997 | D | 0.45 | neutral | None | None | None | None | N |
D/N | 0.0856 | likely_benign | 0.0815 | benign | 0.36 | Stabilizing | 0.003 | N | 0.314 | neutral | N | 0.486731743 | None | None | N |
D/P | 0.3408 | ambiguous | 0.3184 | benign | 0.197 | Stabilizing | 0.599 | D | 0.455 | neutral | None | None | None | None | N |
D/Q | 0.1982 | likely_benign | 0.189 | benign | 0.33 | Stabilizing | 0.799 | D | 0.405 | neutral | None | None | None | None | N |
D/R | 0.2705 | likely_benign | 0.252 | benign | 0.611 | Stabilizing | 0.842 | D | 0.411 | neutral | None | None | None | None | N |
D/S | 0.0859 | likely_benign | 0.0811 | benign | 0.248 | Stabilizing | 0.379 | N | 0.386 | neutral | None | None | None | None | N |
D/T | 0.1311 | likely_benign | 0.1246 | benign | 0.312 | Stabilizing | 0.017 | N | 0.364 | neutral | None | None | None | None | N |
D/V | 0.1537 | likely_benign | 0.1399 | benign | 0.197 | Stabilizing | 0.412 | N | 0.415 | neutral | D | 0.522769901 | None | None | N |
D/W | 0.8031 | likely_pathogenic | 0.7756 | pathogenic | -0.117 | Destabilizing | 0.999 | D | 0.505 | neutral | None | None | None | None | N |
D/Y | 0.2317 | likely_benign | 0.2096 | benign | 0.105 | Stabilizing | 0.994 | D | 0.448 | neutral | N | 0.474722919 | 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.